- 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.
