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Zpráva o onemocněních · Musculoskeletal

Limb-Girdle Muscular Dystrophy

Limb-girdle muscular dystrophy is a muscle wasting condition. Muscles distal from the centre of the body often atrophy over the conditions progression. The disease is linked to mutations in the LGMD1 and LGMD2 genes as well as other genes involved in the development of complex nuclear structures and muscle development such as Titin, DES, LMNA [Lamin A], CAV3, and DNAJB6.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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Všech 3 onemocnění, která analyzujeme

Limb-girdle Muscular Dystrophy

Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

Analyzované geny

Známé také jako

Leyden-Mobius muscular dystrophy; LGMD

Zahrnuje 45 příbuzných podtypů ↓
  • autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
  • autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
  • autosomal dominant limb-girdle muscular dystrophy type 1F
  • autosomal dominant limb-girdle muscular dystrophy type 1G
  • autosomal dominant limb-girdle muscular dystrophy type 1H
  • autosomal recessive limb-girdle muscular dystrophy
  • autosomal recessive limb-girdle muscular dystrophy type 2A
  • autosomal recessive limb-girdle muscular dystrophy type 2B
  • autosomal recessive limb-girdle muscular dystrophy type 2C
  • autosomal recessive limb-girdle muscular dystrophy type 2D
  • autosomal recessive limb-girdle muscular dystrophy type 2E
  • autosomal recessive limb-girdle muscular dystrophy type 2F
  • autosomal recessive limb-girdle muscular dystrophy type 2G
  • autosomal recessive limb-girdle muscular dystrophy type 2H
  • autosomal recessive limb-girdle muscular dystrophy type 2I
  • autosomal recessive limb-girdle muscular dystrophy type 2J
  • autosomal recessive limb-girdle muscular dystrophy type 2K
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • autosomal recessive limb-girdle muscular dystrophy type 2M
  • autosomal recessive limb-girdle muscular dystrophy type 2N
  • autosomal recessive limb-girdle muscular dystrophy type 2O
  • autosomal recessive limb-girdle muscular dystrophy type 2P
  • autosomal recessive limb-girdle muscular dystrophy type 2Q
  • autosomal recessive limb-girdle muscular dystrophy type 2R1
  • autosomal recessive limb-girdle muscular dystrophy type 2T
  • autosomal recessive limb-girdle muscular dystrophy type 2U
  • autosomal recessive limb-girdle muscular dystrophy type 2W
  • autosomal recessive limb-girdle muscular dystrophy type 2X
  • autosomal recessive limb-girdle muscular dystrophy type 2Y
  • autosomal recessive limb-girdle muscular dystrophy type R18
  • Bethlem myopathy 1A
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • epidermolysis bullosa simplex 5B, with muscular dystrophy
  • limb-girdle muscular dystrophy due to POMK deficiency
  • muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
  • muscular dystrophy, limb-girdle, autosomal dominant
  • muscular dystrophy, limb-girdle, autosomal dominant 4
  • muscular dystrophy, limb-girdle, autosomal recessive 23
  • muscular dystrophy, limb-girdle, autosomal recessive 26
  • muscular dystrophy, limb-girdle, autosomal recessive 27
  • muscular dystrophy, limb-girdle, autosomal recessive 28
  • muscular dystrophy, limb-girdle, autosomal recessive 29
  • myofibrillar myopathy 3
  • POMGNT2-related limb-girdle muscular dystrophy R24
  • Ullrich congenital muscular dystrophy 1A
MONDO:0016971Orphanet 263MedGen 151940

Caveolinopathy

Muscle disorders caused by CAV3 variants, including the former limb-girdle muscular dystrophy type 1C, rippling muscle disease and raised creatine kinase levels.

Analyzované geny

Známé také jako

qualitative or quantitative defects of caveolin-3

Zahrnuje 1 příbuzný podtyp ↓
  • isolated asymptomatic elevation of creatine phosphokinase
MONDO:0016146Orphanet 207078MedGen 1826055

Rippling muscle disease 2

Autozomálně dominantní

A muscle disorder in which stretching or tapping the muscle triggers visible rippling movements and muscle mounding, often with stiffness and cramps.

Analyzované geny

Známé také jako

autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3; CAV3 autosomal dominant limb-girdle muscular dystrophy; CAV3 rippling muscle disease; LGMD1C; limb-girdle muscular dystrophy due to caveolin-3 deficiency; limb-girdle muscular dystrophy type 1C; muscular dystrophy limb-girdle type IC; rippling muscle disease caused by mutation in CAV3; rippling muscle disease type 2; RMD2

MONDO:0019947OMIM 606072Orphanet 97238MedGen 371357

Omezení

  • LGMD is a broader condition defined by numerous subtypes, each of which have different inheritance patterns and pathologies. This report does not differentiate applicable subtypes

Reference

  1. Bouchard C, Tremblay JP, 2023. Limb-Girdle Muscular Dystrophies Classification and Therapies. J Clin Med.

Další musculoskeletal conditions

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