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Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

MedGen UID:
1799560
•Concept ID:
C5568137
•
Disease or Syndrome
Synonyms: Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome; autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
SNOMED CT: Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (1179294000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018773
Orphanet: ORPHA476093

Definition

A rare genetic neuromuscular disease with characteristics of length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

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