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Anoctamin-5-related limb-girdle muscular dystrophy R12

Disease definition

A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.

ORPHA:206549

Classification level: Disorder
  • Synonym(s):
    • Anoctamin-5-related LGMD R12
    • Autosomal recessive limb-girdle muscular dystrophy type 2L
    • LGMD type 2L
    • LGMD2L
    • Limb-girdle muscular dystrophy type 2L
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult, Childhood, Adolescent
  • ICD-10: G71.0
  • OMIM: 611307
  • UMLS: C1969785
  • MeSH: -
  • GARD: 12536
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

Detailed information

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Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.