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DISTAL WEAKNESS IN MYOPATHIES


Distal Myopathies: Hereditary 7

DISTAL WEAKNESS: Differential Dx

General
  Features
  Pathology

Myopathies
Centronuclear, Type 2: Dynamin 2; 19p13
Congenital myopathies
Cystinosis, Nephropathic: CTNS; 17p13
Cytoplasmic body
Distal dystrophy: 19p13
Emery-Dreifuss
Finnish: Titin; 2q31
FSH dystrophy
Glycogenoses
  Acid maltase
  Debranching Enzyme
  Phosphorylase b Kinase
Gowers-Laing (MPD1): MYH7; 14q11
Hereditary IBM
  Dominant
  Recessive
  Respiratory failure
LGMD variants
  1A: Myotilin; 5q31
  1C: Caveolin-3; 3p25
  1D: DNAJB6; 7q36
  2B: Dysferlin; 2p13
  2G: Telethonin; 17q12
  2L: ANO5; 11p14
Mitochondrial: POLG1; 15q26
Miyoshi (MMD)
  MMD1: Dysferlin; 2p13
  MMD2: ? 10p
  MMD3: ANO5; 11p14
MPD3
Myasthenia: Agrin; 1p36
Myofibrillar
  αB-crystallin: 11q22
  CCDC78: 16p13
  Desmin: 2q35
  Filamin C (MPD4): 7q32
  Scapuloperoneal: 12q13
  ZASP: 10q23
Myofibrillary (Cytoplasmic body)
Myopathy + Paget's disease of bone
  with Dementia: VCP/p97; 9p13
  Type 2
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