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Autosomal recessive spastic paraplegia type 44
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.
ORPHA:320401
- Synonym(s):
- SPG44
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Adolescent, Adult
- ICD-10: G11.4
- OMIM: 613206
- UMLS: C2750784
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2016, pdf)
- Clinical genetics review
- English (2018)
- Disability factsheet
- Français (2018, pdf)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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