Format

Send to:

Choose Destination

Links from PubMed

Items: 4

1.

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, LATE-ONSET

MedGen UID:
865381
Concept ID:
C4016944
Finding
2.

DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE

MedGen UID:
865380
Concept ID:
C4016943
Finding
3.

Charcot-Marie-Tooth disease type 4f (diagnosis)

MedGen UID:
853788
Concept ID:
C2608082
Disease or Syndrome
4.

Dejerine-Sottas disease

Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011). [from OMIM]

MedGen UID:
3710
Concept ID:
C0011195
Disease or Syndrome
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...