Limb-girdle muscular dystrophy: Overview

Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.

The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.

In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.

Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.

Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. In some cases, the breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation).

Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.

Source: GHR (NLM/NIH)1

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Back to: « Limb-girdle muscular dystrophy

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Affecting both males and females, different types of limb-girdle are caused by different gene mutations. Patients with limb-girdle inherit a defective gene from either parent, or, in the more severe form, the same defective gene from both parents.5

Source: NICHD (NIH)2

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Summary

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.[1] Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern.[2] While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications.[3] There are at least 20 different types of limb-girdle muscular dystrophy.[1] Last updated: 12/17/2015

Source: GARD (NIH)3

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limb-girdle MD - a group of conditions that usually develop in late childhood or early adulthood; some variants can progress quickly and be life-threatening, whereas others develop slowly

Source: NHS Choices UK4

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Limb-girdle muscular dystrophy

Limb-girdle MD refers to a number of related conditions that cause weakness in the big muscle groups at the base of the arms and legs (around the shoulders and hips).

Source: NHS Choices UK5

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Limb-Girdle Muscular Dystrophy: A group of autosomal recessive and less frequently autosomal dominant muscular dystrophies affecting the muscles of the hips and shoulders.6

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Muscular Dystrophies, Limb-Girdle: A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called Lgmds) involving genes encoding muscle membrane proteins such as the sarcoglycan (Sarcoglycans) complex that interacts with Dystrophin. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the Hips and Shoulders (the pelvic and shoulder girdles).7

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Limb-girdle muscular dystrophy: Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).8

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Limb-girdle muscular dystrophy: A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.9

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Limb-girdle muscular dystrophy: Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.10

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ limb-girdle-muscular-dystrophy
  2. Source: NICHD (NIH): nichd.nih.gov/ health/ topics/ musculardys/ conditioninfo/ Pages/ types.aspx
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6907/ limb-girdle-muscular-dystrophy
  4. Source: NHS Choices UK: nhs.uk/ conditions/ Muscular-dystrophy/ 
  5. Source: NHS Choices UK: nhs.uk/ conditions/ muscular-dystrophy/ types/ 
  6. Source: NCI Thesaurus
  7. Source: MeSH (U.S. National Library of Medicine)
  8. Source: Human Phenotype Ontology
  9. Source: Disease Ontology
  10. Source: Monarch Initiative

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.