MUSCULAR DYSTROPHIES

Characteristics:

1-slowly progressive

2-myopathy(EMG-clinic-patholo 3-no metabolic storage

4-symptoms are due to weakne

5-hereditable

6-specific muscular weakness?

7-no treatment

CLASSIFICATION:

Duchenne MD-FSHMD-

Dystrophia Myatonica

Differentiation : age-distribution of

weakness-elevation of CK-speed

of progression-hypertrophy

Laboratory Diagnosis:

EMG-Biopsy-DNA Analysis

every myopathy----ECG-Serum CK

x linked Muscular Dystrophies:

Duchenne MD: incidence:1/3500

1/3 new mutation

prevalence:1/18000

female: carrier

beginning of symptims:3-5years

deleyed of walking-toe walking-

waddeling gait-Gowers sign-

hyperlordosis-facial weakness-

intactness of eye movement&

speech&swallowing-scoliosis-

contracture of iliotibalis&knee&arm

impairment of breathing-clinical intactness of heart&GI-MR(1/3)-

D.D:SMA

Becker MD :Incidence 1/20000

hyper CK emia-hypertrophy of calf

EMG&Pathology=Duchenne

“”&

Age of beginning:12 years

slower progressive than Duchenn

D.D:SMA-Acid maltase deficiency-

Phosphorilase deficiency-

Carriers-Idiopathic hyperCKemi

-Hepatitis

TREATMENT :Prednisolone

Creatin -Myoblast

Brace-surgery-PT-

Supporting-Heart graft

EMERY DERIFUSS M.D:

1-Humeroproneal weakness

2-Contracture of knee &elbow &fingers & anckle

3-heart block (pacemaker )

4-xq28

FSH MD: adolecent-AD-normal CK

Chromosome 4-

Symptoms :1-facial weakness

2-winging of scapula

3-weakness of trapezius

4-biceps weaker triceps

5-Popey effect (upper

arm is thinner forearm) 6-leg weakness

Prognosis :slow progressive

Laboratory findings:

EMG &Biopsy----Myopathy

serum CK-----normal

ECG-----------normal

Treatment: Symptomatic-Albuterol

(B2 adrenergic)-wiring

;

MYASTHENIA GRAVIS;

1-Juvenil&Adult:2th-4thdecade

anti Ach R---85%

Seronegative ---- prepuberty

2-Neonatal MG----12%neonates

floppy limbs-weakened cry -

sucking is impaired

Mothers are sick-presence of Ab in

both-improvement after weeks

Congenital MG:

Mother is asymptomatic

Ophthalmoplegia-No Ab

Weakness of extensors

Drug induced MG: Penicillamin

Trimethadion

Pathology: Hyperplasia of thymus(

70%)-thymoma(10%)

local invasive &old age

-Lymphorrhagia(50%)

Incidence:<40years F/M=3/1

>40years F=M

Prevalence:14/100000

Familial (rarely)

HLA B8-DR3-DQB1

HLA A12(Japan )

SLE-RA-Thyroid disease

Symptoms:1-flactuation of weakness

remission & exacerbation

Crisis

2-Distibution of weakness

Eye muscles 40-85%

Dysarthria - Dysphagia-

Weakness of facial

---Symptoms; limbs &cervical weak

crisis

3-Response to

cholinergic drugs

MG is limited (ocular MG for 2years)

Mortality :rarely

Signs: PE&VS are normal

expressionless face-INO

Limb weakness- ptosis- - diplopia

PFT disturbance-wastng(10%

normal DTR&Sensory

Laboratory Findings:

Normal (U/A-Serum-CSF)Routin

Jolly test 90% abnormal

MEP decreased(20% of normal)

SFEMG---increase of jitter (blocking)

NCV&EMG---Normal

7

Ab—Generalized 85-90% positive

Ocular 50-60% positive

Antimyofibrilar(Titin-myosin-actin-

actomyosin)85%

5%hyperthyroidism

CXR oblique 15%positive(thymom

CT scan of mediastina 100%positiv

Diagnosis:Tensilon&prostigmin test

TREATMENT: 1-Anticholinstrase

2-Plasmaphresis

3-Thymectomy

4-Steroids 5-Immunosupressive

Polymyositis

Disorder of skeletal muscle of diverse

causes --- acute or sub acute onset

Clinical Manifestation : progressive limb

and neck muscles weakness – distal M

are usually affected later – eyelids &

ocular movements spared– dysphagia

usually without disarthria

Systemic symptoms

not evident -arthralgia – weight loss - Malaise

Raynaud symptoms- no rash of DM –no visceral lesion –myocarditis may accure –may persist for years

Laboratory data : EMG myopathic no fasciculation –NCV normal –CK 10 times

Biopsy:CD8 Tlymphocyte muscle

Pathogenesis : autoimmune disease (cellular)

association of PM with Crohn –biliary cirrhosis

sarcoidosis –MG with thymoma and candidiasis – graft versus host disease–

HIV &HTLV1 viral disease

Diagnosis : 1) no familial history 2) progress

from onset peak weeks or months 3) >35 y

4(may improve spontaneusly or with therapy

5(proximal and neck weakness &dysphagia

6(Arthralgia .myalgia and Raynaud symptoms

7(EMG findings

D D : PM with DM --- 1) DM most often homogeneus condition only rarely associated with a known cause other than carcinoma . PM

50% associated with some other systemic dis

2 (PM is often a manifestation of a specific collagen vascular disease ( SLE ,,,,, ) DM rarely

associated with collagen disease

3 (DM ocure at all ages ; PM is rare before

puberty 4)myopathy of DM is sever more often than PM 5) DM is far more likely to be

associated with malignancy than PM

Therapy : Steroids -- immunosuppressive

IVIG --Infliximab