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Limb-girdle muscular dystrophy
Other Resources UpToDate PubMed

Limb-girdle muscular dystrophy

Contributors: Jamie Adams MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed


Limb-girdle muscular dystrophy (LGMD) encompasses a group of over 20 inherited disorders, all characterized by symmetric weakness of the proximal arms and legs. Most are autosomal recessive, but there are some autosomal dominant subtypes; spontaneous mutations also occur. Age of onset is typically in childhood or early adulthood, although the condition can present later in life. Symptoms include progressive weakness of the hips, pelvis, and shoulders, abnormal gait (often lordotic), frequent falls, and muscle atrophy. Depending on the mutation, there may be associated cardiomyopathy or contractures.

Prognosis varies considerably in both individuals and genetic subtype, with some patients progressing rapidly to death from respiratory compromise and other patients remaining ambulatory and having a normal lifespan.


G71.09 – Other specified muscular dystrophies

240046001 – Muscular dystrophy with predominantly proximal limb girdle distribution

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Duchenne muscular dystrophy – found in males
  • Becker muscular dystrophy – found in males
  • Facioscapulohumeral dystrophy – look for facial weakness
  • Emery-Dreifuss muscular dystrophy
  • Dermatomyositis – look for skin findings
  • Polymyositis
  • Congenital, metabolic, or Drug-induced myopathies
  • Glycogen storage disease type 2 (Pompe disease)
  • Spinal muscular atrophy
  • Myasthenia gravis
  • Lambert-Eaton myasthenic syndrome

Best Tests

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Management Pearls

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Last Reviewed:07/19/2017
Last Updated:06/09/2019
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Limb-girdle muscular dystrophy
A medical illustration showing key findings of Limb-girdle muscular dystrophy (Early Disease) : Hypotonia, Muscle atrophy, Proximal muscle weakness, Creatine kinase elevated, Waddling gait, Shoulder weakness, Pelvic weakness
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