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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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