Limb-girdle muscular dystrophy

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Limb-girdle muscular dystrophy
Classification & external resources
ICD-9 359.1
DiseasesDB 32189
eMedicine neuro/189 
MeSH D049288

Limb-girdle muscular dystrophy or Erb's muscular dystrophy is a type of muscular dystrophy that includes Duchenne muscular dystrophy, Becker's muscular dystrophy, and a large number of rarer disorders.

The term "limb-girdle" is used to describe these disorders because the muscles most severely affected are generally those of the hips and shoulders -- the limb girdle muscles.

Common symptoms of limb-girdle muscular distrophy are muscle weakness, myoglobinuria, pain, myotonia, cardiomyopathy, elevated serum CK, and rippling muscles.

The muscle weakness is generally symmetric, proximal, and slowly progressive.

Generally pain is not present with LGMD, and mental function is not affected.

LGMD can begin in childhood, adolescence, young adulthood or even later. The age of onset is usually between 10 and 30. Both genders are affected equally. When limb-girdle muscular dystrophy begins in childhood the progression appears to be faster and the disease more disabling. When the disorder begins in adolescence or adulthood the disease is generally not as severe and progresses more slowly.

The distal muscles are affected late in LGMD, if at all. Over time (usually many years), the person with LGMD loses muscle bulk and strength. Eventually, he may need a power wheelchair or scooter, especially for long distances.

While LGMD isn't a fatal disease, it may eventually weaken the heart and lung muscles, leading to illness or death due to secondary disorders.

LGMD is typically an inherited disorder, though it may be inherited as a dominant, recessive, or X-linked genetic defect. The result of the defect is that the muscles cannot properly form the proteins needed for normal muscle function. Several different proteins can be affected, and the specific protein that is absent or defective identifies the specific type of muscular distrophy.

Treatment for LGMD is primarily supportive. Exercise and physical therapy are advised to maintain as much muscle strength and joint flexibility as possible. Caliphers may be used to maintain mobility and quality of life. Careful attention to lung and heart health is also required.

[edit] List of limb-girdle muscular dystrophies

  • LGMD1A
  • LGMD1B
  • LGMD1C
  • LGMD1D
  • LGMD1E
  • LGMD1F
  • LGMD2A
  • LGMD2B
  • LGMD2C
  • LGMD2D
  • LGMD2E
  • LGMD2F
  • LGMD2G
  • LGMD2H
  • LGMD2I
  • LGMD2J

[edit] External links

 v  d  e Muscular Dystrophy
The Nine Primary Muscular Dystrophies
Becker'sCongenitalDuchenneDistalEmery-DreifussFacioscapulohumeralLimb-girdle muscular dystrophyMyotonicOculopharyngeal
Other diseases generally classified as Muscular Dystrophy
Spinal Muscular Atrophies Amyotrophic lateral sclerosisInfantile Spinal Muscular AtrophyIntermediate Spinal Muscular AtrophyJuvenile Spinal Muscular AtrophyAdult Spinal Muscular Atrophy
Inflammatory Myopathies DermatomyositisPolymyositis
Diseases of Peripheral Nerve Charcot-Marie-Tooth diseaseDeJerine-Sottas DiseaseFriedreich's Ataxia
Diseases of the Neuromuscular Junction Myasthenia gravisLambert-Eaton myasthenic syndrome
Metabolic Diseases of the Muscle Acid Maltase Deficiency • Carnitine Deficiency • Carnitine Palmityl Transferase DeficiencyDebrancher Enzyme Deficiency • Lactate Dehydrogenase Deficiency • Mitochondrial MyopathyMyoadenylate Deaminase DeficiencyPhosphorylase DeficiencyPhosphofructokinase Deficiency • Phosphoglycerate Kinase Deficiency
Less Common Myopathies Central Core Disease • Hyperthyroid Myopathy • Myotonia CongenitaMyotubular MyopathyNemaline myopathyParamyotonia CongenitaPeriodic paralysis
Organizations and National events
Muscular Dystrophy AssociationJerry Lewis MDA TelethonNational Institute of Neurological Disorders and StrokeNational Institute of Arthritis and Musculoskeletal and Skin Diseases


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