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Items: 4

1.

Charcot-Marie-Tooth disease type 2B

A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood. [from SNOMEDCT_US]

MedGen UID:
371512
Concept ID:
C1833219
Disease or Syndrome
2.

Neuropathy, hereditary sensory and autonomic, type 1A

SPTLC1-related hereditary sensory neuropathy (HSN) is an axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena including dysesthesia and characteristic "lightning" or "shooting" pains. Loss of sensation can lead to painless injuries, which, if unrecognized, result in slow wound healing and subsequent osteomyelitis requiring distal amputations. Motor involvement is present in all advanced cases and can be severe. After age 20 years, the distal wasting and weakness may involve proximal muscles, possibly leading to wheelchair dependency by the seventh or eighth decade. Sensorineural hearing loss is variable. [from GeneReviews]

MedGen UID:
1716450
Concept ID:
C5235211
Disease or Syndrome
3.

Hereditary sensory and autonomic neuropathy with spastic paraplegia

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia. [from ORDO]

MedGen UID:
342492
Concept ID:
C1850395
Disease or Syndrome
4.

Foot osteomyelitis

An infection of bone of the foot. [from HPO]

MedGen UID:
1370023
Concept ID:
C4049342
Disease or Syndrome
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