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Items: 3

1.

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE

MedGen UID:
865211
Concept ID:
C4016774
Finding
2.

Distal hereditary motor neuronopathy type 2B

Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs.Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and later, the entire foot. Over a period of approximately 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs. They begin to have trouble walking and running, and eventually may have complete paralysis of the lower legs. The thigh muscles may also be affected, although generally this occurs later and is less severe.Some individuals with distal hereditary motor neuropathy, type II have weakening of the muscles in the hands and forearms. This weakening is less pronounced than in the lower limbs and does not usually result in paralysis.
[from GHR]

MedGen UID:
382017
Concept ID:
C2608087
Disease or Syndrome
3.

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
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