8C70.41

ICD-11 MMS 2026-01

Recessive limb-girdle muscular dystrophy

Description

Autosomal recessive limb girdle muscular dystrophies (LGMD2) are a group of genetically heterogeneous diseases that are typically characterised by progressive weakness and wasting of the shoulder and pelvic girdle muscles. Many of the more than 20 different conditions show overlapping clinical features with other forms of muscular dystrophy, congenital, myofibrillar or even distal myopathies and also with acquired muscle diseases. Although individually extremely rare, all types of LGMD2 together form an important differential diagnostic group among neuromuscular diseases.

Index terms

  • Recessive limb-girdle muscular dystrophy
  • LGMD2 - [Limb-girdle muscular dystrophy] 2
  • Limb-girdle muscular dystrophy 2A, calpain-3 deficiency
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  • Limb-girdle muscular dystrophy 2B, dysferlin deficiency
  • Limb-girdle muscular dystrophy 2C, gamma-sarcoglycan deficiency
  • Limb-girdle muscular dystrophy 2D, alpha-sarcoglycan deficiency
  • Limb-girdle muscular dystrophy 2E, beta-sarcoglycan deficiency
  • Limb-girdle muscular dystrophy 2F, delta-sarcoglycan deficiency
  • Limb-girdle muscular dystrophy 2G, telethonin gene mutation
  • Limb-girdle muscular dystrophy 2H, TRIM32 gene mutation
  • LGMD 2H - [Limb-girdle muscular dystrophy 2H, TRIM32 gene mutation]
  • Limb-girdle muscular dystrophy 2I, fukutin related protein gene mutation
  • FKRP - [fukutin related protein gene mutation]
  • LGMD 2I - [Limb-girdle muscular dystrophy 2I]
  • Limb-girdle muscular dystrophy 2J, Titin gene mutation
  • LGMD 2J - [Limb-girdle muscular dystrophy 2J, Titin gene mutation]
  • Limb-girdle muscular dystrophy 2K, protein-O-mannosyltransferase 1 transferase
  • LGMD 2K - [Limb-girdle muscular dystrophy 2K]
  • POMT1 - [protein-O-mannosyltransferase 1 transferase]
  • Limb-girdle muscular dystrophy 2L, AN05 gene mutation
  • LGMD 2L - [Limb-girdle muscular dystrophy 2L]
  • Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation
  • LGMD2M - [limb-girdle muscular dystrophy 2M]
  • Limb-girdle muscular dystrophy 2N, POMT2 gene mutation
  • LGMD2N - limb-girdle muscular dystrophy 2N]
  • Limb-girdle muscular dystrophy-dystroglycanopathy (type C2)
  • MDDGC2
  • Limb-girdle muscular dystrophy 2O, POMGNT1 gene mutation
  • LGMD2O - [limb-girdle muscular dystrophy 2O]
  • Limb-girdle muscular dystrophy-dystroglycanopathy (type C3)
  • MDDGC3
  • Limb-girdle muscular dystrophy 2Q, plectin deficiency
  • LGMD2Q - [limb-girdle muscular dystrophy 2Q]
  • Limb-girdle muscular dystrophy-dystroglycanopathy C7
  • MDDGC7

Excludes

  • http://id.who.int/icd/entity/1159616108 – Secondary myopathies
  • http://id.who.int/icd/entity/1425591047 – Myasthenia gravis or certain specified neuromuscular junction disorders

Exclusions from above levels

  • http://id.who.int/icd/entity/155258022 – Metabolic disorders
  • LD26.41 – Arthrogryposis multiplex congenita
  • 05 – Endocrine, nutritional or metabolic diseases
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  • 18 – Complications of pregnancy, childbirth and the puerperium
  • 19 – Certain conditions originating in the perinatal period
  • 22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

  • 8C70.40 – Dominant limb-girdle muscular dystrophy
  • 8C70.4Y – Other specified limb-girdle muscular dystrophy
  • 8C70.4Z – Limb-girdle muscular dystrophy, unspecified

Foundation entity

Recessive limb-girdle muscular dystrophy – http://id.who.int/icd/entity/319162980

Allowed postcoordination axes

Part of: 8C70.4: Limb-girdle muscular dystrophy › 8C70: Muscular dystrophy › 08: Diseases of the nervous system