MME-related autosomal dominant Charcot Marie Tooth disease type 2

MedGen UID:: 1798873
•Concept ID:: C5567450
•: Disease or Syndrome

Synonyms:	Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2; MME-related autosomal dominant CMT2; MME-related autosomal dominant hereditary motor and sensory neuropathy type 2
SNOMED CT:	MME-related autosomal dominant Charcot Marie Tooth disease type 2 (1172585006); Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (1172585006); MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 (1172585006)
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:0044657
Orphanet:	ORPHA497757

Definition

A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age. [from SNOMEDCT_US]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

MME-related autosomal dominant Charcot Marie Tooth disease type 2

Fetal anomaly
- Congenital Systemic Disorder
  - Abnormality of the nervous system
    - Hereditary motor and sensory neuropathy
      - Charcot-Marie-Tooth disease
        Charcot-Marie-Tooth disease type 2
        MME-related autosomal dominant Charcot Marie Tooth disease type 2

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MME-related autosomal dominant Charcot Marie Tooth disease type 2

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