How does the family history aid in diagnosis of muscular dystrophy syndromes?
Many of the muscular dystrophy syndromes have strong patterns of inheritance
Muscular Dystrophy Syndromes Inheritance Patterns
Duchenne muscular dystrophy | X-linked recessive |
Becker muscular dystrophy | X-linked recessive |
Limb-girdle muscular dystrophies | Autosomal recessive or dominant |
Facioscapulohumeral muscular dystrophy | Autosomal dominant |
Myotonic dystrophy | Autosomal dominant |
Proximal myotonic myopathy | Autosomal dominant |
Key Elements of Physical Examination
System | Examine for |
---|---|
General | Cardiopulmonary disease, infection, thyroid disease, malignancy |
Joints | Synovitis, deformities, contractures |
Muscles | Muscle bulk, tenderness, weakness, fasciculations |
Neurologic | Sensory abnormalities, deep tendon reflexes, weakness |