LGMD is a genetic disease resulting in weakness of muscles around shoulders and hips. Both males and females are affected. Genetic pattern is usually autosomal recessive, but it can also be autosomal dominant.

What are symptoms and signs of LGMD?

• Progressive, symmetric, proximal muscle weakness, starting in childhood to young adulthood.
• Scapular winging.
• Calf hypertrophy.
• Contractures.
• Cardiomyopathy.
• Respiratory failure.
• Sometimes, weakness is asymmetric.

 

How is LGMD diagnosed?

. Clinical examination.

. Labs: High CK level.

. EMG/NCS.

. Muscle biopsy.

. Genetic testing.

. MRI: May help with progression.

 

How is LGMD treated?

So far, no specific treatment is available. Gene therapy may provide solution for this problem.

 

Where can I find more information about DMD?

American Academy of Neurology

Child Neurology Society