Limb-girdle muscular dystrophy

How is limb-girdle muscular dystrophy inherited?

Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner. There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. Therefore, it may be challenging to determine the exact recurrence risks for some families.

Establishing the type of LGMD in an affected individual can be useful for discussing the clinical course of the disease as well as for determining who else in the family may be at risk for the condition.

Last updated on 05-01-20

How might limb-girdle muscular dystrophy (LGMD) be treated?

Unfortunately, no definitive treatments for LGMD exist. Management depends on each individual and the specific type of LGMD that the individual has. However, the American Academy of Neurology has developed guidelines for treatment of LGMD including:

  • Weight control to avoid obesity
  • Physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles)
  • 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 respiratory function and use of respiratory aids when needed
  • Monitoring for evidence of cardiomyopathy in the types of LGMD with known occurrence of cardiac involvement
  • Monitoring of weight given the potential for swallowing issues (dysphagia) and use of nutritional supplementation as needed
  • 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

A team approach to treatment is recommended including a neurologist, pulmonologist, cardiologist, orthopedic surgeon, physiatrist, physical/occupational/speech therapist, nutritionist, orthopedist, mental health counselors, and geneticist/genetic counselor.

While not a currently available treatment option, some studies have shown promising results with the use of gene therapy. More research is needed to prove the safety and efficacy of this treatment approach.

Last updated on 05-01-20

Management Guidelines

American Academy of Neurology

The American Academy of Neurology (AAN), the medical specialty society of neurologists, offers a summary of recommended guidelines for Limb-girdle muscular dystrophy

Last updated on 04-27-20

Name: Muscular Dystrophy Family Foundation P.O. Box 776
Carmel, IN, 46082, United States
Phone: +1-317-615-9140 Email: info@mdff.org Url: https://mdff.org/ MDFF provides financial assistance, quality programs and services for the Muscular Dystrophy community in Indiana.
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: resourcecenter@mdausa.org Url: https://www.mda.org
Darras BT. Limb-girdle muscular dystrophy UpToDate. March 25, 2015; Reference Link

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