Charcot-Marie-Tooth disease axonal type 2V(CMT2V)

MedGen UID:: 1800473
•Concept ID:: C5569050
•: Disease or Syndrome

Synonyms:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V
SNOMED CT:	Autosomal dominant Charcot-Marie-Tooth disease type 2V (1187618009); Hereditary adult onset painful axonal polyneuropathy (1187618009); Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation (1187618009); Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU (N-acetyl-alpha-glucosaminidase) mutation (1187618009)
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.	NAGLU (17q21.2)

Monarch Initiative:	MONDO:0014665
OMIM®:	616491
Orphanet:	ORPHA447964

Definition

A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. [from SNOMEDCT_US]

Clinical features

From HPO

Lower limb pain

MedGen UID:: 6033
•Concept ID:: C0023222
•: Sign or Symptom

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.

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Paresthesia

MedGen UID:: 14619
•Concept ID:: C0030554
•: Disease or Syndrome

Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.

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Peripheral neuropathy

MedGen UID:: 18386
•Concept ID:: C0031117
•: Disease or Syndrome

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.

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Sleep abnormality

MedGen UID:: 52372
•Concept ID:: C0037317
•: Sign or Symptom

An abnormal pattern in the quality, quantity, or characteristics of sleep.

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Sensory ataxia

MedGen UID:: 66020
•Concept ID:: C0240991
•: Sign or Symptom

Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.

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Hyporeflexia

MedGen UID:: 195967
•Concept ID:: C0700078
•: Finding

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

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Impaired vibratory sensation

MedGen UID:: 220959
•Concept ID:: C1295585
•: Finding

A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.

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Distal sensory impairment