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Limb-girdle muscular dystrophy, type 2C


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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). 

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The following information may help to address your question:

  • What is limb-girdle muscular dystrophy type 2C?
  • How might limb-girdle muscular dystrophy, type 2C (LGMD2C) be treated? 

What is limb-girdle muscular dystrophy type 2C?

Limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic condition that affects the voluntary muscles around the hips and shoulders. 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. Symptoms of LGMD2C usually appear around 6-8 years of age, may be mild or severe, and can progress to loss of the ability to walk by 12-16 years. Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle (cardiomyopathy), and respiratory abnormalities.[1][2] LGMD2C is caused by mutations in the SGCG gene and is inherited in an autosomal recessive manner.[3] Although there is no specific treatment or cure for LGMD2C, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.[1]

Last updated: 8/9/2016

How might limb-girdle muscular dystrophy, type 2C (LGMD2C) be treated? 

There is no specific treatment for LGMD2C. Management of the condition is based on each person's symptoms and may include:[4]
  • 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 diseases of the heart muscle (cardiomyopathy)
  • 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: 8/9/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

Please see our Disclaimer.

References References


  1. Glenn Lopate. Limb-Girdle Muscular Dystrophy. Medscape Reference. October 28, 2014; http://emedicine.medscape.com/article/1170911-overview.
  2. Kate Bushby. Limb-Girdle Muscular Dystrophies. NORD. 2012; http://rarediseases.org/rare-diseases/limb-girdle-muscular-dystrophies/.
  3. Victor A. McKusick. Limb-girdle muscular dystrophy type 2C. In: Cassandra L. Kniffin. OMIM Database. 8/4/2016; http://www.omim.org/entry/253700.
  4. Pegoraro E and Hoffman EP. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. August 30, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1408/.

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