Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Autosomal recessive spastic paraplegia type 44

ORPHA320401
Synonym(s) SPG44
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Adolescent
Adult
ICD-10
  • G11.4
OMIM
UMLS
  • C2750784
MeSH -
MedDRA -

Summary

Disease definition

Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Review article
Article for general public
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.