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Congenital myopathy, Paradas type

MedGen UID:
1388555
•Concept ID:
C4511057
•
Disease or Syndrome
Synonyms: Congenital muscular dystrophy Paradas type; Congenital myopathy Paradas type; congenital myopathy, Paradas type
SNOMED CT: Congenital muscular dystrophy Paradas type (725420009); Congenital myopathy Paradas type (725420009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016049
Orphanet: ORPHA199329

Definition

An early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. To date, two cases have been described. The disease is caused by a mutation in the dysferlin gene (DYSF) coding for a protein involved in membrane repair. Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital myopathy, Paradas type

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