IT 3 - Kelainan Tulang Muskuler (MIS, DMD) - RTA

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MUSCULOSCELETAL DISORDERS

IN CHILDRENDr. Msy Rita Dewi A SpA(K)

Divisi neurologic pediatric

Departemen Ilmu Kesehatan AnakRSMH/FK UNSRI



Bones of the Skull

Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Figure 5.11

11/18/2014 2



Congenital Abnormalities of

Ossification of the skull

• Decreased Ossification – Anencephaly

– Cranium bifidum

– Encephalocele

– Dandy walker Syndrome

– Holoproencephaly

– Hydransefali

– Hydrocephalus

– Porencephaly

– Persistens fontanela

– Osteogenesis imperfecta



Congenital Abnormalities of

Ossification of the skull

• Increased density and/or thickness of the skull

– Osteopetrosis

– cranyosinostosis

• Deformity of the cranial Base

– Achondroplasia

– Osteogenesis imperfecta

– Skeletal dysplasia



Anencephaly• Anencephaly is a serious birth

defect in which a baby is born

without parts of the brain and skull

It is a type of neural tube defect

(NTD

factors that affect the risk :

• Low intake of folic acid before getting

pregnant

Babies born to Hispanic mothers are atan increased risk for anencephaly.3

http://www.cdc.gov/ncbddd/birthdefects/anencephaly.html

http://www.cdc.gov/ncbddd/birthdefects/anencephaly.html



HIDROSEFALUS

Pembesaran sistem ventrikel ok ketidak

seimbangan produksi dan absorbsi cairan

serebrospinal

gangguan sirkulasi CSS di dalam ventrikel,

menghasilkan dilatasi ventrikel secara

progresif



Patogenesis/patofisiologi hidrosefalus

• Pembentukan CSS berlebihan

• Obstruksi sistem ventrikel

• Gangguan absorbsi

meningkatnya tek intrakranial

meningkatnya volume CSSdilatasi ruang CSS



Hidrosefalus vs Atropi cerebri

HIDROSEFALUS

• LK > 2 SD (Nelhause)

• UUB lebar, membonjol

• Sun set sign, venamelebar

• CT Scan kepala

– Sulkus otak menghilang

– Ventrikel “blunting”

– Edema intersisial

– Tempat sumbatan

ATROPI SEREBRI

• LK normal, > / < 2 SD

• UUB lebar, cekung

• Kepala penampilan normal• CT Scan kepala

– Sulkus otak jelas, lebar

– Ventrikel “tajam”

– Edema intersisialis (-)

– Kalsifikasi, iskemik



CT Scan kepala

HIDROSEFALUS ATROPI SEREBRI



Makrosefal - Hidrosefalus



Hidrosefalus vs Hidranensefali

HIDROSEFALUS

• Sumbatan Aq Sylvii atauforamen otak

• Etiologi infeksi, tumor, kelbawaan

• CT Scan:

– Jaringan otak terdesak,ventrikel membesar

• Terapi: – VP Shunt

HIDRANENSEFALI

• Destruksi kortek danbasal ganglia

• Etiologi sumbatan Aserebri media ok infeksi

saat kehamilan• CT Scan:

– Kepala berisi cairan otak,ventrikel normal

• Terapi: – VP Shunt??

Fetal and neonatal neurology and neurosurgery 2001. h..279-80



CT can - Hidranensefali

http://rds.yahoo.com/_ylt=A0S020p262tIdBwBUnqJzbkF;_ylu=X3oDMTBqNjNxOXJjBHBvcwM3MARzZWMDc3IEdnRpZAM-/SIG=1nkg87ftp/EXP=1215118582/**http:/images.search.yahoo.com/images/view?back=http://images.search.yahoo.com/search/images?p=hydranencephaly&ni=18&ei=UTF-8&fr=yfp-t-501&xargs=0&pstart=1&b=55&w=500&h=500&imgurl=static.flickr.com/2145/1751639258_d7bf943907.jpg&rurl=http://www.flickr.com/photos/15611323@N03/1751639258/&size=31.9kB&name=6wk+old+with+irritability&p=hydranencephaly&type=JPG&oid=aa33fd8110031954&fusr=CUMC+Radiology&tit=6wk+old+with+irritability&hurl=http://www.flickr.com/photos/15611323@N03/&no=70&sigr=11lslpuan&sigi=11g0bkokn&sigb=13gdq4g6p&sigh=11aa2jq60&tt=144



Mikrosefal Vera (Genetik) :

AR dengan kelainan gen pada kromosom 8.

Karakteristik : dahi datar kedalam, telinga &

hidung prominen, dagu kecil, spastik diplegia,

kejang, & defisiensi mental

Neuroimaging normal

Kelainan kromosom (mutasi gen)

trisomi 13 & 18, sindrom delesi

3p, 4p, 5p, 11q, 13q, 18p, 18 q), &

sindrom duplikasi (4p,10q)

Ada kelainan kongenital lain yang menyertai

Kelainan dengan manifestasi mikrosefal

Mikrosefal primer

DeMyer W. Microcephaly, micrencephaly, megalocephaly,and megalencephaly. In: Swaiman KF, Ashwal S,

eds. Pediatric neurology:principles and practice, 3rd ed. St. Louis: CV Mosby, 1999:301–311.



Holoprosencephaly

Pembelahan defektif forebrain : hemisfer cerebri

gagal berpisah

Gejala klinis : mikrosefal, kejang, episode apneic,

retardasi psikomotor berat, kadang anomali fasial midline

Agenesis Corpus Callosum

Serat komisura yang menghubungkan hemisfer cerebri

tidak ada

Dapat asimptomatis atau terjadi bersama dengan

malformasi otak lainnya

Gejala klinis : kejang dan mental retardasi

Macrogyria

Bentuk girus besar abnormal dalam jumlah yang kecil

Gejala klinis : mikrosefal, kejang & mental retardasi

Kelainan migrasi neuronal



Pendekatan Diagnostik

Riwayat

- tanda disfungsi neurologis

– keterlambatan perkembangan,

gerakan paroxysmal

– preferensi tangan dini

– Prenatal/kelahiran

(usia kehamilan, PB, LK)

– keluarga mikrocephali- konsumsi obat maternal,

konsumsi alkohol, PKU

Pemeriksaan fisik

- LK orang tua

– LK anak sebelumnya

– Deselerasi pertumbuhan kepala +/-– BB dan PB/TB, defisiensi hormonal

– Kulit, mata (TORCH,

infeksi chorioretinitis )

- Gambaran dismorfik

- Ukuran fontanela

- Hepatosplenomegaly

– Status neurologis & perkembangan

Laboratorium

-TORCH

-kadar thyroid/GH, LFT–Chromosomes,

-7-dehydrocholesterol–tes Genetic MECP-2

-proteolipid protein–Amino acids

-tembaga

Radiologi

CT dan MRI

Skull foto

PranatalUSG

DNA

Fenichel GM.Clinical pediatric neurology:

a signs and symptoms

approach,

4th ed. Philadelphia:

WB Saunders, 2001

Postnatal





Prinsip tatalaksana mikrosefali

• Memaksimalkan kapabilitas anak sehingga

dapat mandiri dimasyarakat

• Mencegah dan meminimalkan deformitas

yang ada



Penatalaksanaan dan intervensi

Terapi spesifik

Mikrosefal primer

tidak ada

Rehabilitasi

fungsi motorik

fungsi bicara

perkembangan sosial

Edukasi

Pendidikan

khususKoreksi visus &pendengaran

AED (kejang+)

lain-lain

Def hormon : suplementasi

TORCH infeksi : eradikasi infeksi aktif

PKU : restriksi dietetik phenylalanineMenkes syndrome : suplementasi tembaga

Craniosynostosis : pembedahan

Aicardi J. Diseases of the nervous systemin childhood, 2nd ed. London: Mac Keith Press, 1998.



Prognosis

• Faktor penentu :

1. Deteksi dini mikrosefal

2. Jenis mikrosefal

3. Kemungkinan timbulnya komplikasi karena mikrosefal4. Adanya kelainan kongenital lain yang menyertai

• Secara umum : angka kualitas hidup tidak baik karena fungsiotak tidak optimal

• Craniosinostosis : tergantung kecepatan diagnostik dankecepatan terapi pembedahan



Major craniosynostosis syndromes

• Apert Syndromes

• Crouzon’s disease



Sindroma APERT



SINDROM APERTSindrom Apert, secara virtual sinonim dengan

acrocephalosyndactyly .

Diklasifikasikan sebagai kelainan bawaan , sindrom arkus

brankial dan secara spesifik mempengaruhi arkus branchial atau sebagai pharyngeal pertama, prekursor dari maxilla

dan mandibulla.

Karena branchial merupakan gambaran perkembangan

penting pada janin yang sedang tumbuh, gangguan dalam

perkembangannya memberikan dampak yang luas dan

menetap.



• Tulang/ wajah:

– Diameter anteroposterior pendek – Dahi penuh, tinggi, occiput datar

– Kroniosinotosis irreguler (khususnya coronal suture)

– Fontanel besar dan terlambat menutup

– Wajah datar

– Supraorbital horizontal grove

– Bola mata dangkal

– Celah palpebral miring ke bawah

– Hipertelorisme, strabismus

– Anomali gigi, maxilalipoplasi

– Langit-langit mulut sempit dengan atau tanpa celah

SINDROM APERT : gambaran klinis (1)



• Anggota tubuh:

– Sindaktili tulang atau kulit, fusi total atau

parsial, jari-jari pendek

– Umum : fusi lengkap jari kedua, ketiga, dankeempat, bagian distal lebar dari ibu jari

dan dalam posisi valgus

– Sindaktili kulit pada semua jari kaki, dengan

atau tanpa sindaktili tulang, bagian distal

hallux




• Sistem Saraf Pusat

– Argenesis corpus callosum

– Ventrikulomegali tidak progresif

– Hidrosefalus progresif – Septum pellucidum tidak ada atau defek

– Giri abnormal

– Hipokampus abnormal – Megalensefali




Penampilan dan pertumbuhan

– Defisiensi mental/ Intelectual Disability

– Rata-rata panjang dan berat lahir di atas persentil 50

– Keterlambatan dalam pertumbuhan

SINDROM APERT : gambaran/ dari (4)



Sindroma Crouzon



SINDROMA CROUZON

Sindroma Crouzon adalah kelainan genetik yang dikenal

sebagai sindrom dari arkus brankial. Secara spesifik

sindroma ini mempengaruhi arkus brankhial (atau

pharyngeal ) pertama, yang merupakan prekursor dari

maxilla dan mandibulla. Karena arkus brankhial adalah

gambaran perkembangan penting dalam embryo yang

sedang tumbuh, gangguan dalam perkembangannya

memberikan efek yang menyebar luas dan menetap.



Crouzon : Gambaran klinis (1)

Tengkorak

o Kraniosinotosis• Secara umum dimulai pada tahun pertama kehidupan

dan biasanya berakhir pada tahun kedua atau ketiga

• Sentra Coronal and sagital paling umum terlibat,menghasilkan acrocephaly, brachycephaly, turricephaly,

oxycephaly , occiput datar, dan dahi tinggi menonjoldengan atau tanpa penonjolan kedepan

• Persambungan tengkorak biasanya teraba

• Tengkorak bentuk daun jarang (hanya 7%) dan terjadipada individu yang berkelainan terberat

o Tulang sfenoid mendatar

o Rongga mata dangkalo Hidrosefalus (progresif pada 30%) kasus



Hidungo Penampakan seperti paruh

o Jalan napas pendek

o Atresia atau stenosis chonao Septum nasal

Mulut

o Mandibular prognathismGigi atas berantakan, maloklusi, dan arkus segi

vertikal berbentuk V

Langit-langit mulut sempit, tinggi, atau bercelah

dan uvula membelah dua

o Kadang-kadang oligodontia, macrodontia, bentuk kaderus, dan gigi jarang-jarang




Wajah

Hipoplasi wajah bagian tengahMata

• Exophthalmos (proptosis) ..> pendangkalan orbit

---> conjunctivitis atau keratitis

• Hypertelorism mata• Strabismus divergen , Nystagmus,

• Jarang terjadi iris coloboma, aniridia, anisocoria

• Microcornea, megalocornea, katarak, ectopia lentis,blue sclera, glaucoma, luksasi bola mata, papilledema

• Atrofi optik dari kenaikan tekanan intrakranial yangmeningkat menuju kebutaan




Telingao Kanal telinga sempit atau tidak adao Deformasi telinga tengah

Gambaran tulang yang laino Fusi Cervical (18%), C2-C3 and C5-C6

o Fusi blok melibatkan banyak vertebra

o Subtensasi pada kaput radial

o Kekakuan siku




Kulit

• Kira-kira 5% pasien mengalami acanthosisnigricans, yang dapat terdeteksi setelah masabayi

• Tanda dari lesi ini adalah kulit yang menebal danmenghitam dengan bercak-bercak teraksentuasiseperti beludru

SSP

• Kira-kira 73% pasien mengalami herniasi tensilerkronik (47% hidrosefalus progresif).

• Dapat terjadi Syringomyelia




Diseases and onditions

of the Skeletal System

11/18/2014 untuk kalangan mahasiswa unsri 34




Arthritis





• Inflammation of the Bursa (fluid filled sacsurrounding the joint).

• A bursa can become inflamed from injury,

infection (rare in the shoulder), or due to an

underlying rheumatic condition.

• Bursitis is typically identified by localized

pain or swelling, tenderness, and pain with

motion of the tissues in the affected area.


Bursitis




T d iti



• Sometimes the tendons become inflamed

for a variety of reasons, and the action of pulling the muscle becomes irritating. If

the normal smooth gliding motion of your

tendon is impaired, the tendon will

become inflamed and movement will

become painful. This is called tendonitis,

and literally means inflammation of the

tendon.• The most common cause of tendonitis is

overuse.


Tendonitis






• Any condition that causes swelling or achange in position of the tissue withinthe carpal tunnel can squeeze and

irritate the median nerve. Irritation of the median nerve in this mannercauses tingling and numbness of thethumb, index, and the middle fingers, a

condition known as "carpal tunnelsyndrome."


Carpal Tunnel Syndrome









• Scoliosis is an abnormal curvature of the

spine.

• In child, the view from behind may reveal

one or more abnormal curves.

• Scoliosis runs in families, but doctorsoften don't know the cause.

• More girls than boys have severe

scoliosis. In other cases, scoliosis mayresult from a degenerative joint condition

in the spine.


Scoliosis












• With kyphosis, your spine may look normal

or you may develop a hump.

• Kyphosis can occur as a result of

developmental problems; degenerativediseases, such as arthritis of the spine;

• osteoporosis with compression fractures of

the vertebrae; or trauma to the spine. It can

affect children, adolescents and adults.


Kyphosis









• A normal spine, when viewed from

behind appears straight. However, a

spine affected by lordosis shows

evidence of a curvature of the backbones (vertebrae) in the lower back

area, giving the child a "swayback"

appearance.


Lordosis







Tuberculosis of the Spine



• As a form of extrapulmonary tuberculosis that impacts the

spine, Pott’s disease has an effect that is sometimes

described as being a sort of arthritis for the vertebrae that

make up the spinal column.

• More properly known as tuberculosis spondylitis, Pott’sdisease is named after Dr. Percivall Pott, an eighteenth

century surgeon who was considered an authority in

issues related to the back and spine.Pott's disease is often

experienced as a local phenomenon that begins in the

thoracic section of the spinal column.

• Early signs of the presence of Pott’s disease generally

begin with back pain that may seem to be due to simple

muscle strain. However, in short order, the symptoms will

begin to multiply.


Tuberculosis of the Spine-

Pott’s Disease

http://www.wisegeek.com/what-is-tuberculosis.htm

http://www.wisegeek.com/what-is-arthritis.htm

http://www.wisegeek.com/what-is-arthritis.htm

http://www.wisegeek.com/what-is-tuberculosis.htm












• Rickets is the softening and weakening

of bones in children, usually because

of an extreme and prolonged vitamin D

deficiency.• Some skeletal deformities caused by

rickets may need corrective surgery.


Rickets






• The human body lacks the ability tosynthesize and make vitamin C and thereforedepends on exogenous dietary sources tomeet vitamin C needs. Consumption of fruits

and vegetables or diets fortified with vitaminC are essential to avoid ascorbic aciddeficiency. Even though scurvy isuncommon, it still occurs and can affect

adults and children who have chronic dietaryvitamin C deficiency.


Scurvy






• Poliomyelitis (polio) is a highly infectious disease caused by a virus. It invadesthe nervous system, and can cause total paralysis in a matter of hours. It can

strike at any age, but affects mainly children under three (over 50% of all cases).

The virus enters the body through the mouth and multiplies in the intestine.

Initial symptoms are fever, fatigue, headache, vomiting, stiffness in the neck and

pain in the limbs. One in 200 infections leads to irreversible paralysis (usually in

the legs). Amongst those paralysed, 5%-10% die when their breathing muscles

become immobilized. Although polio paralysis is the most visible sign of polio

infection, fewer than 1% of polio infections ever result in paralysis. Poliovirus

can spread widely before cases of paralysis are seen. As most people infected

with poliovirus have no signs of illness, they are never aware they have been

infected. After initial infection with poliovirus, the virus is shed intermittently in

faeces (excrement) for several weeks. During that time, polio can spread rapidly

through the community.11/18/2014 untuk kalangan mahasiswa unsri 62

Poliomyelitis

ALGORITME MENETAPKAN DIAGNOSIS DI



ALGORITME MENETAPKAN DIAGNOSIS DI

RUMAH SAKIT

AFPAnamnesis

pemeriksaan

RT (-)

Lumpuh asimetrik

Sens (+)

RT (-)/

Lumpuh simetrik/-Sens (-)

RT (n)

Lumpuh otot OkulobulberSens (+)

RT (n)/

Lumpuh proksimalSens (+)

Serum CK

RT

parapareseSens (-)

Ggn BAK/BAB

Kel di sel

kornu anterior

Kel di

saraf perifer

Kel. Pd

myoneural junction Kel di otot Kel di

medula spinalis

POLIOMYELITIS

GBS

Poli neuritis/

Neuropati

Myastenia gravis

Botulism

Keracunan Fosfat

Myositis

Myopati

Transverse myelitis

Abses, Tumor

LCS






• Spina bifida is a birth defect that involvesthe incomplete development of the spinalcord or its coverings.

• The term spina bifida comes from Latinand literally means "split" or "open"

spine.Spina bifida occurs at the end of the first month of pregnancy when thetwo sides of theﾊembryo's spine fail to join together, leaving an open area. Insome cases, the spinal cord or othermembranes may push through thisopening in the back. The condition usuallyisﾊdetected before a baby is born andtreated right away.


Spina Bifida










Talipes Equinovarus-



• Clubfoot is a deformity of the whole foot that is present at birth. There are several typesof clubfoot that are jointly known as 'talipes',as the deformity is mostly in the talus (a

bone in the ankle). The most common of thetalipes is what is known as "talipes equinovarus" - it is so common that the wordclubfoot is commonly used to refer to this. In

talipes equino varus, the child is born withthe foot pointing down and twisted inwardsat the ankle.


Talipes Equinovarus-

“Clubfoot”






Achondroplasia?

• Achondroplasia is an autosomal dominant

condition

• It was discovered in 1994 by Dr. John Wasmuth

• It is caused by a mutation of the fibroblast growth

factor receptor-3 (FGFR3) gene on

chromosome 4.

• Achondroplasia is the most common form of

Dwarfism

• Although there are over 200 types of dwarfism,

two-thirds have achondroplasia

• It affects 1 in 25,000

• 30,000 to 50,000 in U.S. have some form ofDwarfism

• It occurs in both sexes and all races

• Motor skills are temporarily delayed

• Cognitive skills/intelligence levels are not affected



Characteristics

• Characteristic features are evident at birth

• Head is large, forehead is prominent

• Hydrocephalus (excess fluid on the brain) may

present

• Protruding jaw, poor dental structure, crowded teeth

• Disproportionate features

• Upper extremities are shorter than lower extremities

• Hands are short; fingers are stubby

• Average adult height is about 4 feet tall



A Social History of Achondroplasia

• Depicted in ancient Egyptian art

• Classical Greece and Rome

• In Renaissance and Medieval courts,

dwarves were often ‘owned’ as a

sign of wealth

• Isabella d’Este and Diego Velázquez

• Scandinavian Mythology

• 18th and 19th century Russia



How does Achondroplasia affect development?

• Obstructive Upper Airway Disease

• Middle-ear infections; hearing problems

• Because of large heads,

short limbs and poor muscle tone,

motor skills are delayed

• Spinal alignment problems

• Back pain

• Walking problems

• Excessive weight gain



Treatment Options

• Growth Hormone Therapy (GHT)• Lumbar lordosis (reverse curvature of spine)

• Lumbosacral spinal stenosis (narrow spinal

canal adds pressure to spinal cord)

• Lumbar laminectomy surgery

• Limb lengthening surgery is very controversial:

• 70% have transient pain

• 45% have infections• 35% experience foot drop

• 30% experience stiff knees

• 15% experience stiff ankles

• Reports of incorrect alignment (legs are uneven)



Muscular System

• There are 630 muscles

in the human body.

•There are involuntary

muscles like the heart

and the intestines.

• There are also

voluntary muscles likeyour wrists, and your

legs.

11/18/2014 76http://dante.med.utoronto.ca/skeletalmuscle/publicationpictures4.ht

m

http://dante.med.utoronto.ca/skeletalmuscle/pictures/history%20pics/valerie/Fig.%2014%20Posterio.gif

http://dante.med.utoronto.ca/skeletalmuscle/pictures/history%20pics/valerie/Fig.%2014%20Posterio.gif



Muscular System

• The human body has

about 630 muscles.

• The children have230muscles.




Diseases and onditions

of the muscular System


f d f l



Symptoms of diseases of muscle can be as follows:

1. Muscular weakness

2. Spasticity/rigidity

3. Loss of muscular control

4. Myoclonus

5. Myalgia (muscular pain).Diagnostic procedures that may reveal muscular disorders include:

1. Direct clinical observations

2. The testing of various chemical and antigen levels in the blood,and

3. Electromyography (EMG)Measuring electrical activity inmuscles.

4. Muscle biopsy

5. Diagnostic imaging may be helpful in certain cases, like strokes ortumors.


Symptoms of diseases of Muscle



1. Electromyography(EMG)

2. Muscle biopsy

3. Serum Creatinine Phosphokinase (CPK MM/ 3) ismarkedly Raised in Duchenne musculardystrophy but normal or moderately raised inother types

Management:

• No specific therapy• Physiotherapy is helpful


Investigation:

1 DUCHENNE MUSCULAR DYSTROPHY



• Duchenne muscular dystrophy (DMD) is a severe recessive

X-linked form of muscular dystrophy characterized by: Rapid progression of muscle degeneration, eventually

leading to loss of ambulation and death.

• (DMD) is the most common childhood form of musculardystrophy, becoming clinically evident when a childbegins walking. Patients typically require a wheelchair byage 10 to 12 and die in their late teens to early 30s,though some people with Duchenne muscular dystrophyare now living to age 40 and beyond.

• Occurs one in 3500 males, making it the most prevalent ofmuscular dystrophies.

• In general, only males are affected, though females can becarriers.


1. DUCHENNE MUSCULAR DYSTROPHY



• The disorder is caused by a mutation in the gene DMD,located in humans on the X chromosome (Xp21).

• The DMD gene codes for the protein dystrophin, animportant structural component within muscle tissue.

• Dystrophin is part of a complex structure involving severalother protein components.

•

The "dystrophin-glycoprotein complex" helps anchor thestructural skeleton (cytoskeleton) within the muscle cells,through the outer membrane (sarcolemma) of each cell, tothe tissue framework (extracellular matrix) that surroundseach cell.

•

Due to defects in this assembly, contraction of the muscleleads to disruption of the outer membrane of the musclecells and eventual weakening and wasting of the muscle


l l f



• Symptoms usually appear in male children before age 6 andmay be visible in early infancy.

• Progressive proximal muscle weakness of the legs and pelvisassociated with a loss of muscle mass is observed first.

• Eventually this weakness spreads to the arms, neck, and otherareas.

• Early signs may include pseudohypertrophy (enlargement of calf muscles), difficulties in standing unaided or inability toascend staircases, frequent fall.

• GOWER’s sign

•

As the condition progresses, muscle tissue experienceswasting and is eventually replaced by fat and fibrotic tissue(fibrosis)Joint contracture.

• By age 10, braces may be required to aid in walking but mostpatients are wheelchair dependent by age 12.


Clinical features:






• Later symptoms may include abnormal bonedevelopment that lead to skeletal deformities,

including curvature of the spine.• Due to progressive deterioration of muscle, loss of

movement occurs eventually leading to paralysis.

• Intellectual impairment may or may not be presentbut if present, does not progressively worsen as the

child ages.• Recurrent pulmonary infection

• Development of Cardiomyopathy

• The average life expectancy for patients affected with

DMD varies from early teens to age mid 30s.• There have been reports of DMD patients surviving

past the age of 40 and even 50.





Investigations:



1. CPK: Markedly raised(100-200 times)

2. EMG: Shows myopathic pattern

3. Muscle biopsy: Shows fiber necrosis,

Regeneration and replacement by fat.


est gat o s:



• There is no known cure for Duchenne muscular dystrophy, although

recent stem-cell research is showing promising results that may replace

damaged muscle tissue. Treatment is generally aimed at controlling the

onset of symptoms to maximize the quality of life, and include the

following.

1. Corticosteroids such as prednisolone and deflazacort increase energy and

strength and defer severity of some symptoms.

2. Mild, non-jarring physical activity such as swimming is encouraged.Inactivity (such as bed rest) can worsen the muscle disease.

3. Physical therapy is helpful to maintain muscle strength, flexibility, and

function.

4. Orthopedic appliances (such as braces and wheelchairs) may improve

mobility and the ability for self-care. Form-fitting removable leg bracesthat hold the ankle in place during sleep can defer the onset of

contractures.

5. Appropriate respiratory support as the disease progresses is important





P i



• Duchenne muscular dystrophy eventually affects allvoluntary muscles and involves the heart and breathingmuscles in later stages.

• The life expectancy typically ranges from the late teensto the mid-30s.

• However, some people with Duchenne musculardystrophy are now living to age 40 and beyond.

• Recent advancements in medicine are extending thelives of those afflicted.


Prognosis

Ph i l Th



• Physical therapists are concerned with enabling

children to reach their maximum physical potential.Aim is to:

1.Minimize the development of contractures anddeformity by developing a program of stretches and

exercises where appropriate2.Anticipate and minimize other secondary

complications of a physical nature

3.Monitor respiratory function and advice on techniquesto assist with breathing exercises and methods ofclearing secretions

4.Schedule weekly to monthly sessions at a massagetherapist to decrease the present pain.


Physical Therapy



2. Becker's muscular dystrophy is an X-linked recessive

inherited disorder characterized by slowly progressive muscle

weakness of the legs and pelvis• BMD is caused by the production of a truncated, but partially

functional form of dystrophin , resulting in instability in thestructure of muscle cell membrane.

• Survival is usually into old age• Becker's muscular dystrophy is related to Duchenne muscular

dystrophy in that both result from a mutation in thedystrophin gene, but in Duchenne muscular dystrophy nofunctional dystrophin is produced making DMD much more

severe than BMD.• Both Duchenne and Becker's muscular dystrophy have

traditionally been called "X-linked" recessive diseases.




• Muscle weakness , slowly progressive (Difficulty running, hopping,

jumping; Progressive difficulty walking)

•

Toe-walking (walking on toes; also known as equinus)• Use of Gower's Maneuver to get up from floor.

• Frequent falls

• Difficulty in breathing

• Non progressive cognitive dysfunction only in rare cases: not as common

as in Duchenne Muscular Dystrophy because the brain only needs small

amounts of dystrophin.

• Calf muscle enlargement (pseudohypertrophy) is quite obvious.

• Cardiomyopathy may occur, but the development of congestive heart

failure or arrhythmias (irregular heartbeats) is rare.

• Loss of ambulation (loss of ability to walk) may not occur until the person

is in his fifties.


INVESTIGATION



• Creatine kinase (CPK) levels may be elevated.

• An electromyography (EMG) shows that weakness is caused by

destruction of muscle tissue rather than by damage to nerves.

• Genetic testing

• A muscle biopsy (immunohistochemistry or immunoblotting) or genetictest (blood test) confirms the diagnosis.


INVESTIGATION



• There is no known cure for Becker's muscular dystrophy.

• Treatment is aimed at control of symptoms to maximize the quality of

life.• Activity is encouraged.

• Inactivity (such as bed rest) or sitting down for too long on plane or carrides can worsen the muscle disease.

• Physical therapy may be helpful to maintain muscle strength.

• Orthopedic appliances such as braces and wheelchairs may improvemobility and self-care.

• Genetic counseling may be advisable when potential carriers orpatients want to have children.

• Sons of a man with Becker's muscular dystrophy do not develop thedisorder, but daughters will be carriers (and some carriers can

experience some symptoms of muscular dystrophy). The daughters'sons may develop the disorder.

• Immunosuppressant steroids like Prednisone have been known to helpslow the progression of Becker Muscular Dystrophy.


Prognosis:



• Becker's muscular dystrophy results in slowlyprogressive disability, and patients eventually use a

cane or wheelchair.• Death can occur from age 40 but some patients enjoy a

nearly normal lifespan.


Prognosis:

Complications



• Deformities

• Permanent, progressive disability manifested asdecreased mobility

•

Mental impairment - However, this is much lesscommon than DMD.

• Cardiomyopathy

• Pneumonia or other respiratory infections

• Respiratory failure


Complications



• Limb-girdle muscular dystrophy or Erb'smuscular dystrophy is an Autosomal class ofmuscular dystrophy that is similar but distinct

from Duchenne muscular dystrophy and Becker’smuscular dystrophy.

• Limb-girdle muscular dystrophy encompasses a

large number of rare disorders


3.LIMB GIRDLE MUSCULAR DYSTROPHY



• The term "limb-girdle" is used to describe these disorders

because the muscles most severely affected are generally

those of the hips and shoulders -- the limb girdle muscles. Common symptoms of limb-girdle muscular dystrophy are:

• Muscle weakness

• Myoglobinuria

• Myotonia

• Cardiomyopathy

• Elevated serum CK

• The muscle weakness is generally symmetric, proximal, andslowly progressive.




• Generally pain is not present with LGMD, and

mental function is not affected.• LGMD can begin in childhood, adolescence,

young adulthood or even later.

• The age of onset is usually between 10 and 30.

• Both genders are affected equally.• When limb-girdle muscular dystrophy begins in

childhood the progression appears to be fasterand the disease more disabling.

• When the disorder begins in adolescence oradulthood the disease is generally not as severeand progresses more slowly.


Treatment



• Treatment for LGMD is primarily supportive.

• Exercise and physical therapy are advised to maintain as much

muscle strength and joint flexibility as possible.

• Calipers may be used to maintain mobility and quality of life.

• Careful attention to lung and heart health is also required.• IV Ig may increase strength in some forms and prevent

progression in others

• Corticosteroids : Helps to Prevent fibrosis and inflammation

without the secondary weakening .


Treatment

Prognosis:



• The person with LGMD loses muscle bulk and

strength.

• Eventually, patient may need a power

wheelchair or scooter, especially for long

distances.

• While LGMD isn't a fatal disease, it may

eventually weaken the heart and lung

muscles, leading to illness or death due tosecondary disorders


Prognosis:

4.CONGENITAL MYOPATHY



• Congenital myopathy refers to a group of muscle disorders that appear at birth or ininfancy.

• Typically, an infant with a congenital myopathy will be "floppy," have difficulty

breathing or feeding, and will lag behind other babies in meeting normaldevelopmental milestones such as turning over or sitting up.

• Muscle weakness can occur for many reasons, including a problem with nerve thatstimulates the muscle/ brain.

• Muscle degeneration may be mild or severe.

• Problems may be restricted to skeletal muscle, or muscle degeneration may be pairedwith effects on the brain and other organ systems.

• A number of the forms of the congenital muscular dystrophies are caused by defects inproteins that are thought to have some relationship to the dystrophin-glycoproteincomplex and to the connections between muscle cells and their surrounding cellularstructure.

• Some forms of congenital muscular dystrophy show severe brain malformations, suchas lissencephaly and hydrocephalus

• Therefore, to diagnose a congenital myopathy, a neurologist will perform a detailed

physical exam as well as tests to determine the cause of weakness.INVESTIGATIONS:

• Creatinine kinase

• EMG

• Muscle biopsy, and

• Genetic testing.11/18/2014 untuk kalangan mahasiswa unsri 103

5 Facioscapulohumeral muscular dystrophy



• Facioscapulohumeral muscular dystrophy is an AD form of musculardystrophy that initially affects the skeletal muscles of the face (facio),

scapula (scapulo) and upper arms (humeral).

• Symptoms may develop in early childhood and are usually noticeable in

the teenage years with 95% of affected individuals manifesting disease by

age 20 years.• A progressive skeletal muscle weakness usually develops in other areas of

the body as well

• The weakness is asymmetrical.

• Life expectancy is normal, but up to 15% of affected individuals become

severely disabled and eventually must use a wheel chair

• Non-muscular symptoms frequently associated with FSHD include

subclinical sensorineural hearing loss and retinal telengectasia.


5.Facioscapulohumeral muscular dystrophy

CLINICAL FEATURES



• Facial muscle weakness (eyelid drooping, inability towhistle, decreased facial expression, depressed or angryfacial expression, difficulty pronouncing the letters M, B,and P)

• Shoulder weakness (difficulty working with the arms raised,

sloping shoulder)• Hearing loss

• Abnormal heart rhythm

• Unequal weakening of the biceps, triceps, deltoids, andlower arm muscles

• Loss of strength in stomach muscles and eventualprogression to the legs

• Foot drop





6 MYOTONIC MUSCULAR DYSTROPHY



• Myotonic dystrophy (dystrophia myotonica) is Chronic, slowly

progressing, highly variable inherited multisystemic disease that canmanifest at any age from birth to old age.

• It is characterized by :

1. Wasting of the muscles

2. Posterior subcapsular cataracts

3. Heart conduction defects

4. Endocrine changes and

5. Myotonia (difficulty relaxing a muscle).

• The highly variable age of onset decreases with successive

generations.• Thus the disease shows at an earlier age in successive

generations a phenomenon termed anticipation.


6.MYOTONIC MUSCULAR DYSTROPHY



• Myotonic dystrophy is the most common form of muscular dystrophy

allowing adult survival and the second most common form of any skeletal

muscle disease after Duchenne muscular dystrophy.

• Distal weakness and severe cognitive problems

• Muscle pain, stiffness, fatigue, or the development of proximal lower

extremity weakness

• In face and jaw muscles, the drooping of the eyelids (ptosis), weakness ofthe neck muscles, hands and lower legs.

• Muscle wasting, dysphagia and respiratory insufficiency

• Cognitive problems may range from developmental delays, learning

problems, language, speech, behaviour, apathy or hypersomnia.


MYOTONIC DYSTROPHY




MYOTONIC DYSTROPHY

MYOTONIA



• Myotonia is a symptom of a small handful of certain Neuromuscular

disorders characterized by the slow relaxation of the muscles after

voluntary contraction or electrical stimulation.• Generally, repeated effort is needed to relax the muscles, and the

condition improves after the muscles have warmed-up.

• However, prolonged, Vigorous exercise may also trigger the condition.

• Symptoms of myotonia are more frequently experienced in women during

pregnancy

• Can be tested by hand grip:

Individuals with the disorder may have trouble releasing their grip on

objects or may have difficulty rising from a sitting position

• Cardiac involvement: Arrhythmia,CHF• Cataract and intellectual deterioration


MYOTONIA




MYOTONIA

9.EMERY DREIFUSS MUSCULAR DYSTROPHY



• A group of genetic, degenerative diseases primarily affecting voluntarymuscles.

• Cause - Mutations in the genes that produce emerin, lamin A or lamin C,

proteins in the membrane that surrounds the nucleus of each muscle cell.

• Onset - Usually by 10 years of age.

• Symptoms - Weakness and wasting of shoulder, upper arm and calfmuscles, Foot drop, joint stiffening/early contractures, fainting (because of

cardiac abnormalities).

Progression –

• Disease usually progresses slowly.

• Cardiac complications are common and sometimes require a pacemaker.


9.EMERY DREIFUSS MUSCULAR DYSTROPHY

EMERY DREIFUSS MUSCULAR DYSTROPHY




METABOLIC MYOPATHY



• Glycogen storage disease• Mitochondrial disease

• Metabolic diseases of muscle can affect all thebody's voluntary muscles, such as those in the

arms, legs and trunk.• Some can also involve increased risk of heart or

liver diseases, and the effects can damage thekidneys.


METABOLIC MYOPATHY



Metabolic diseases of muscle can affect all the body's voluntary muscles, such

as those in the arms, legs and trunk. Some can also involve increased risk of

heart or liver diseases, and the effects can damage the kidneys.


METABOLIC MYOPATHY

ENDOCRINE MYOPATHY



• Major categories of endocrine myopathy include those

associated with:

(1) Adrenal dysfunction (as in Cushing disease or steroid myopathy);

(2) Thyroid dysfunction (hypo/hyperthyroidism)

(3) Parathyroid dysfunction (as in multiple endocrine

neoplasia/hyperparathyroidism);

(4) Pituitary dysfunction; and

(5) Pancreas dysfunction (as in diabetic myopathy from ischemic

infarction of the femoral muscles).

(6)Drugs: Zidovudine, Pentazocine and Penicillamine


INFLAMMATORY MYOPATHY



• Muscle inflammation may be caused by an allergic reaction, exposure to atoxic substance or medicine, another disease such as cancer or

rheumatoid conditions, or a virus or other infectious agent.

• The chronic inflammatory myopathies are idiopathic

• They are thought to be autoimmune disorders, in which the body’s white

blood cells attack blood vessels, normal muscle fibers, and connectivetissue in organs, bones, and joints

• These rare disorders may affect both adults and children, although

Dermatomyositis is the most common chronic form in children.

• Polymyositis and dermatomyositis are more common in women than in

men.

• A rare childhood onset form of Polymyositis and Dermatomyositis can

occur in children between the ages of 2 and 15 years.


Grading Motor Strength/POWER



Grade Description

1. 0/5

2. 1/5

3. 2/5

4. 3/5

5. 4/5

6. 5/5

1. No muscle movement

2. Visible muscle movement,but no movement at the joint

3. Movement at the joint, butnot against gravity

4. Movement against gravity,but not against addedresistance

5. Movement againstresistance, but less thannormal

6 N l t th

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IT 3 - Kelainan Tulang Muskuler (MIS, DMD) - RTA