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Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 20 different types of limb-girdle muscular dystrophy.
Source: GARD Last updated on 05-01-20
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
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:
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
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
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