Charcot-Marie-Tooth disease axonal type 2T(CMT2T)

MedGen UID:: 864072
•Concept ID:: C4015635
•: Disease or Syndrome

Synonyms:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2T; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2T; CMT2T
SNOMED CT:	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T (1187128001); Charcot-Marie-Tooth disease type 2T (1187128001)
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)

Gene (location): Gene(s) directly associated with this condition or phenotype.	MME (3q25.2)

Monarch Initiative:	MONDO:0014866
OMIM®:	617017
Orphanet:	ORPHA443950

Definition

Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

Clinical features

From HPO

Distal lower limb muscle weakness

MedGen UID:: 324514
•Concept ID:: C1836450
•: Finding

Reduced strength of the distal musculature of the legs.

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Foot dorsiflexor weakness

MedGen UID:: 356163
•Concept ID:: C1866141
•: Finding

Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.

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Unsteady gait

MedGen UID:: 68544
•Concept ID:: C0231686
•: Finding

A shaky or wobbly manner of walking.

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Areflexia

MedGen UID:: 115943
•Concept ID:: C0234146
•: Finding

Absence of neurologic reflexes such as the knee-jerk reaction.

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Dementia

MedGen UID:: 99229
•Concept ID:: C0497327
•: Mental or Behavioral Dysfunction

A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.

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Hyporeflexia