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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
Classification level: Disorder- 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 (2021)
- Disability factsheet
- Français (2018, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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.