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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-02-2009
Symbol AMCD1
Location 9p13.3
Name arthrogryposis multiplex congenita, distal, type IA
Other name(s) arthrogryposis, distal type 1
Corresponding gene TPM2
Other symbol(s) AGMD1, DA1A
Main clinical features
  • involvement primarily of the distal part of the limbs (especially hands and feet), a characteristic position of the hands (medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly)
  • positional foot deformities, and relatively good response to physical therapy; contractures at other joints variable, no associated visceral anomalies, intelligence normal
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name tropomyosin 2 (beta)
    Remark(s) mutations cause increased contractility of developing fast-twitch skeletal muscles, thus causing muscle contractures and the development of the observed limb deformities (Robinson 2007)