Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Charcot-Marie-Tooth disease type 2Y(CMT2Y)

MedGen UID:: 1800449
•Concept ID:: C5569026
•: Disease or Syndrome

Synonyms:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y; Charcot-Marie-Tooth disease, axonal, type 2y; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y
SNOMED CT:	Autosomal dominant Charcot-Marie-Tooth disease type 2Y (1187565005); Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation (1187565005); Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP (valosin containing protein) mutation (1187565005)
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)

Gene (location): Gene(s) directly associated with this condition or phenotype.	VCP (9p13.3)

Monarch Initiative:	MONDO:0014735
OMIM®:	616687
Orphanet:	ORPHA435387

Definition

Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

Clinical features

From HPO

Absent Achilles reflex

MedGen UID:: 108240
•Concept ID:: C0558845
•: Finding

Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.

See: Feature record | Search on this feature

Pes cavus

MedGen UID:: 675590
•Concept ID:: C0728829
•: Congenital Abnormality

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

See: Feature record | Search on this feature

Hammertoe

MedGen UID:: 209712
•Concept ID:: C1136179
•: Anatomical Abnormality

Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.

See: Feature record | Search on this feature

Weakness of the intrinsic hand muscles

MedGen UID:: 322432
•Concept ID:: C1834536
•: Finding

See: Feature record | Search on this feature

Distal lower limb muscle weakness

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

Reduced strength of the distal musculature of the legs.

See: Feature record | Search on this feature

Distal upper limb muscle weakness

MedGen UID:: 461970
•Concept ID:: C3150620
•: Finding

Reduced strength of the distal musculature of the arms.

See: Feature record | Search on this feature

Impaired distal vibration sensation

MedGen UID:: 381262
•Concept ID:: C1853767
•: Finding

A decrease in the ability to perceive vibration in the distal portions of the limbs.

See: Feature record | Search on this feature

Decreased motor nerve conduction velocity

MedGen UID:: 388130
•Concept ID:: C1858729
•: Finding

A type of decreased nerve conduction velocity that affects the motor neuron.

See: Feature record | Search on this feature

Impaired distal tactile sensation

MedGen UID:: 867225
•Concept ID:: C4021583
•: Finding

A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.

See: Feature record | Search on this feature

Proximal muscle weakness in lower limbs

MedGen UID:: 356423
•Concept ID:: C1866010
•: Finding

A lack of strength of the proximal muscles of the legs.

See: Feature record | Search on this feature

Proximal muscle weakness in upper limbs

MedGen UID:: 356424
•Concept ID:: C1866012
•: Finding

A lack of strength of the proximal muscles of the arms.

See: Feature record | Search on this feature

Elevated circulating creatine kinase concentration

MedGen UID:: 69128
•Concept ID:: C0241005
•: Finding

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

See: Feature record | Search on this feature

Show all Hide all