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Results: 15

1.

Charcot-Marie-Tooth disease, type 2N

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
413754
Concept ID:
C2750090
Disease or Syndrome
2.

Charcot-Marie-Tooth disease type 2B2

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
381352
Concept ID:
C1854150
Disease or Syndrome
3.

Charcot-Marie-Tooth disease type 2E

MedGen UID:
375127
Concept ID:
C1843225
Disease or Syndrome
4.

Charcot-Marie-Tooth disease type 2J

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
375107
Concept ID:
C1843153
Disease or Syndrome
5.

Charcot-Marie-Tooth disease type 2K

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
375064
Concept ID:
C1842983
Disease or Syndrome
6.

Charcot-Marie-Tooth disease, type 2A2

Charcot-Marie-Tooth hereditary neuropathy type 2A (CMT2A) is a classic axonal peripheral sensorimotor neuropathy characterized by earlier and more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Most affected individuals develop symptoms in the first or second decade. It has recently been suggested that CMT2A represents more than 90% of the severe dominant CMT2 cases. However, milder late-onset cases and unusual presentations have also been described. [from GeneReviews]

MedGen UID:
373098
Concept ID:
C1836485
Disease or Syndrome
7.

Charcot-Marie-Tooth disease type 2B

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
371512
Concept ID:
C1833219
Disease or Syndrome
8.

Charcot-Marie-Tooth disease, type 2A1

Charcot-Marie-Tooth hereditary neuropathy type 2A (CMT2A) is a classic axonal peripheral sensorimotor neuropathy characterized by earlier and more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Most affected individuals develop symptoms in the first or second decade. It has recently been suggested that CMT2A represents more than 90% of the severe dominant CMT2 cases. However, milder late-onset cases and unusual presentations have also been described. [from GeneReviews]

MedGen UID:
350076
Concept ID:
C1861678
Disease or Syndrome
9.

Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
343064
Concept ID:
C1854154
Disease or Syndrome
10.

Charcot-Marie-Tooth disease type 2F

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
335784
Concept ID:
C1847823
Disease or Syndrome
11.

Charcot-Marie-Tooth disease type 2I

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
334363
Concept ID:
C1843251
Disease or Syndrome
12.

Charcot-Marie-Tooth disease type 2H

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
334344
Concept ID:
C1843173
Disease or Syndrome
13.

Charcot-Marie-Tooth disease, type 2G

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
332949
Concept ID:
C1837805
Disease or Syndrome
14.

Charcot-Marie-Tooth disease, type 2L

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
324826
Concept ID:
C1837552
Disease or Syndrome
15.

Charcot-Marie-Tooth disease type 2D

GARS-associated axonal neuropathy (Charcot-Marie-Tooth neuropathy type 2D/distal spinal muscular atrophy V [CMT2D/dSMA-V]) is characterized by adolescent or early-adult onset of bilateral weakness and atrophy of thenar and first dorsal interosseus muscles, sparing of the hypothenar eminence until later in the course of illness, and mild to moderate impairment of vibration sense in the hands and feet later in the disease course in a minority of individuals. The phenotype is considered the CMT2D subtype when sensory deficits (reduction of pinprick, temperature, touch, and vibration perception in a stocking and [less often] glove pattern) are present and dSMA-V when sensory deficits are absent. The lower limbs are involved in about half of affected individuals. The earliest elicited manifestations in many individuals are transient cramping and pain in the hands on exposure to cold and cramping in calf muscles on exertion. [from GeneReviews]

MedGen UID:
316946
Concept ID:
C1832274
Disease or Syndrome

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