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Charcot-Marie-Tooth disease axonal type 2X(CMT2X)

MedGen UID:: 1800447
•Concept ID:: C5569024
•: Disease or Syndrome

Synonyms:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X
SNOMED CT:	Autosomal recessive Charcot-Marie-Tooth disease type 2X (1187563003); Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (SPG11 vesicle trafficking associated, spatacsin) mutation (1187563003); Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation (1187563003)
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.	SPG11 (15q21.1)

Monarch Initiative:	MONDO:0014726
OMIM®:	616668
Orphanet:	ORPHA466775

Definition

Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani 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

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).

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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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Ankle flexion contracture

MedGen UID:: 332440
•Concept ID:: C1837407
•: Anatomical Abnormality

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Areflexia of lower limbs

MedGen UID:: 347285
•Concept ID:: C1856694
•: Finding

Inability to elicit tendon reflexes in the lower limbs.

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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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Distal upper limb muscle weakness

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

Reduced strength of the distal musculature of the arms.

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Spasticity

MedGen UID:: 7753
•Concept ID:: C0026838
•: Sign or Symptom

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

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Babinski sign

MedGen UID:: 19708
•Concept ID:: C0034935
•: Finding

Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.

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Postural tremor

MedGen UID:: 66696
•Concept ID:: C0234378
•: Sign or Symptom

A type of tremors that is triggered by holding a limb in a fixed position.

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Positive Romberg sign

MedGen UID:: 66017
•Concept ID:: C0240914
•: Finding

The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.

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Hypoplasia of the corpus callosum

MedGen UID:: 138005
•Concept ID:: C0344482
•: Congenital Abnormality

Underdevelopment of the corpus callosum.

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Gait disturbance

MedGen UID:: 107895
•Concept ID:: C0575081
•: Finding

The term gait disturbance can refer to any disruption of the ability to walk.

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Peripheral axonal neuropathy

MedGen UID:: 266071
•Concept ID:: C1263857
•: Disease or Syndrome

An abnormality characterized by disruption of the normal functioning of peripheral axons.

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Distal sensory impairment

MedGen UID:: 335722
•Concept ID:: C1847584
•: Finding

An abnormal reduction in sensation in the distal portions of the extremities.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Wrist flexion contracture

MedGen UID:: 592338
•Concept ID:: C0409345
•: Acquired Abnormality

A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.

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Kyphoscoliosis