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Charcot-Marie-Tooth disease dominant intermediate D(CMTDID)

MedGen UID:
334318
Concept ID:
C1843075
Disease or Syndrome
Synonyms: Charcot-Marie-Tooth disease dominant intermediate 3; CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D; CMT DI3; MPZ-Related Intermediate Charcot-Marie-Tooth Neuropathy
SNOMED CT: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (765747004)
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.
 
Gene (location): MPZ (1q23.3)
 
Monarch Initiative: MONDO:0011909
OMIM®: 607791
Orphanet: ORPHA100046

Definition

A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. [from SNOMEDCT_US]

Clinical features

From HPO
Upper limb muscle weakness
MedGen UID:
305607
Concept ID:
C1698196
Finding
Weakness of the muscles of the arms.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Segmental peripheral demyelination/remyelination
MedGen UID:
335873
Concept ID:
C1843077
Finding
A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Axonal degeneration/regeneration
MedGen UID:
368889
Concept ID:
C1968790
Finding
A pattern of simultaneous degeneration and regeneration of axons (see comment).
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCharcot-Marie-Tooth disease dominant intermediate D
Follow this link to review classifications for Charcot-Marie-Tooth disease dominant intermediate D in Orphanet.

Recent clinical studies

Clinical prediction guides

Ishikawa K, Yamamoto S, Hattori S, Nishimura N, Tani H, Mito T, Matsumoto H, Miyakawa T, Nakada K
J Neurosci 2019 Feb 27;39(9):1588-1604. Epub 2019 Jan 3 doi: 10.1523/JNEUROSCI.2139-18.2018. PMID: 30606759Free PMC Article
Mathis S, Funalot B, Boyer O, Lacroix C, Marcorelles P, Magy L, Richard L, Antignac C, Vallat JM
J Neuropathol Exp Neurol 2014 Mar;73(3):223-33. doi: 10.1097/NEN.0000000000000047. PMID: 24487800

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