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Genetic and Rare Diseases Information Center (GARD)

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Limb-girdle muscular dystrophy, type 2C


Other Names for this Disease
  • Adhalin deficiency, secondary
  • DMDA
  • DMDA1
  • Duchenne-like muscular dystrophy, autosomal recessive, type 1
  • Epileptic encephalopathy with global cerebral demyelination
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I live in Serbia, and I'm looking all around the world to find somebody who may give me hope and help me with my problem. In 1998 when I was 12-years-old, I suddenly felt some pains in my leg muscles and from that moment I have problems with my all body muscles. Now I am 23 and I still walk on my own but it is very hard. Two years ago I was diagnosed with gamma-sarcoglycanopathy (LGMD2C). 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is limb-girdle muscular dystrophy type 2C?

Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene.[1] This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips.[2] LGMD2C is inherited in an autosomal recessive manner, and treatment is based on an individual's symptoms.[2]
Last updated: 4/14/2009

What treatment is available for limb-girdle muscular dystrophy?

There is no specific treatment for limb-girdle muscular dystrophy.[3] Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition:

  • Weight control to avoid obesity
  • Physical therapy and stretching exercises to promote mobility and prevent contractures
  • Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility
  • Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis
  • Monitoring of respiratory function and use of respiratory aids when indicated
  • Monitoring for evidence of cardiomyopathy in those subtypes with known occurrence of cardiac involvement
  • Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders
Last updated: 4/14/2009

References
Other Names for this Disease
  • Adhalin deficiency, secondary
  • DMDA
  • DMDA1
  • Duchenne-like muscular dystrophy, autosomal recessive, type 1
  • Epileptic encephalopathy with global cerebral demyelination
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.