Catalog
Autosomal recessive pure hereditary spastic paraplegia
No MMS code
Link to WHO Definition
Autosomal recessive pure hereditary spastic paraplegia – http://id.who.int/icd/entity/1787645638
A term used to describe a group of clinically and genetically heterogenous disorders which are inherited in an autosomal recessive manner and in which the neurological features are limited to lower limb spasticity, pyramidal weakness, hyperreflexia, hypertonic bladder involvement and mild diminution of lower extremity vibration sense. The diagnosis may be aided by neuroimaging and genetic testing.
Parents
Children
- Autosomal recessive spastic paraplegia type 30
- Autosomal recessive pure hereditary spastic paraplegia due to mutations in Spatacsin gene
- Autosomal recessive spastic paraplegia type 28
- Autosomal recessive spastic paraplegia type 24
- Autosomal recessive spastic paraplegia type 5A
- Autosomal recessive spastic paraplegia type 7