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Limb-Girdle Muscular Dystrophy

- Discussion:
    - limb-girdle muscular dystrophy encompasses a wide variety of clinical diseases;
          - characterized by weakness of the shoulders and hips with weakness of the distal muscles of the limbs in more severely affected patients;
    - usually transmitted in an autosomal recessive mode but there is a variable age of onset and progression;
    - of note, an autosomal dominant pattern of inheritance has been reported in some families;

- Clinical Findings:
    - clinical characteristics are similar to those of sporadic Becker Muscular Dystrophy, and those of carriers of Duchenne or Becker muscular dystrophy, &
              those of childhood acid-maltase deficiency;
    - patients show various degrees of proximal muscle weakness, often asymmetric and slowly progressive;

- Labs:
    - level of creatine phosphokinase may be as high as 10 times that of normal;
    - normal dystrophin assay is essential to establish the diagnosis;

- EMG:  findings on EMG and biopsy are those of a myopathy;

- Treatment:
    - treatment is similar to that described for Becker muscular dystrophy

Current Concepts Review.  The Diagnosis and Orthopaedic Treatment of Inherited Muscular Diseases of Childhood.

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy