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Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

Disease definition

A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

ORPHA:280333

Classification level: Disorder
  • Synonym(s):
    • Alpha-dystroglycan-related LGMD R16
    • Autosomal recessive limb-girdle muscular dystrophy type 2P
    • LGMD type 2P
    • LGMD2P
    • Limb-girdle muscular dystrophy type 2P
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G71.0
  • OMIM: 613818
  • UMLS: C4511963
  • MeSH: -
  • GARD: 12541
  • MedDRA: -

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

Detailed information

General public

Guidelines

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.