Myopathy (General)

8/8/2019 Myopathy (General)

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Myopathy

By: Rey Martino


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Definition

myopathy is a muscular disease in which

the muscle fibers do not function for any oneof many reasons, resulting in muscular

weakness.


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Classification1) Congenital

I. Muscular dystrophies

II. Myotonia

III. Congenital myopathies

-nemaline myopathies-multi/minicore myopahies

-centronuclear myopathy

IV. Mitochondrialmyopathies

V. Familial periodic paralysis

VI. Inflammatory myopathies

VII. Metabolic myopathies

-Glycogen storage diseases

-Lipid storage disorder


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2) Acquired

I. Dermatomyositis

II. Polymyositis

III. Myositis ossificans

IV. Rhabdomyolisis


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Classification of Muscular Dystrophies

Based on

Clinic

al Pattern

s:

Duchenne Muscular Dystrophy

Becker Muscular Dystrophy

Congenital Muscular Dystrophies

Fascioscapulohumeral Muscular Dystrophy (FSH)

Scapuloperoneal Muscular Dystrophy

Limb-Girdle Muscular Dystrophy

Oculopharyngeal Muscular Dystrophy


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Thank You


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Causes & Risk factor Inheritable myopathies are caused by a genetic

defect. The most common muscular dystrophies, DMD

and BMD, genetic defect on the X chromosome.

Risk factors for other types ofmyopathy include the

following: autoimmune disorders (e.g., myasthenia gravis, scleroderma,

thyroiditis)

Endocrine disorders (e.g., Cushing syndrome, hypothyroidism,

hyperthyroidism)

Exposure to toxins (e.g., herbicides, insecticides,)

Infection (e.g., HIV, Lyme disease, trichinosis)

Vitamin D deficiency, vitamin E or A toxicity

Medication (e.g., long-term corticosteroid use)

Metabolic disorder (e.g., glycogen and lipid storage diseases)


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Signs and Symptoms Skeletal muscle weakness hallmark of most

myopathies, with some noticeable exceptions,(myotonia and paramyotonia congenita)

weakness occurs primarily in the muscles of theshoulders, upper arms, thighs, and pelvis (proximalmuscles). In some cases, the distal muscles of the

hands and feet may be involved advanced stage ofdisease.

Other typical symptoms ofmuscle disease include thefollowing:

Aching

Cramping

Pain

Stiffness

Tenderness

Tightness


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Complication If heart (cardiac) muscle is affected in later stages of disease,

abnormal heart rhythms or weakness of the heart muscle(cardiomyopathy) may develop. A patient with cardiomyopathy is

at risk for congestive heart failure (CHF).

myopathies can cause significant breathing difficulties and an

increased risk for pneumonia, flu (influenza), and otherrespiratory infections.

When swallowing muscles are affected, patients with myopathy

are at increased risk for choking and malnutrition.


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Diagnosis

Complete family history

Clinical and Neurological Evaluation

Blood Tests: Creatine kinase (CK), Lactic

dehydrogenase (LDH), Pyruvate kinase (PK)

Electromyogram

Muscle Tissue Biopsy


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Treatment

Muscular Dystrophies

to slow the progression of disease and relieve symptoms.

Corticosteroids (e.g., deflazacort, prednisone) improve

strength and walking ability for about 6 months in boys with

Duchenne dystrophy.

Preventive treatment for permanent contraction of a muscle(contractures) includes physical therapy and bracing

Heel cord surgery (tendon release) and spine-straightening

surgery (i.e., rod insertion) may be necessary in cases of

severe contractures.

Endocrine Myopathies treating the underlying condition helps relieve muscle

weakness and pain associated with endocrine myopathies.


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Inflammatory Myopathies

Prednisone high doses (up to 100mg/day) and then slowly

tapered to the lowest possible dose that relieves symptoms.

Metabolic Myopathies

primary goal in treating metabolic myopathies is to avoid

situations that tax the muscles and promote muscle pain and

weakness, like strenuous exercise.


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T

hank You

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Myopathy (General)