Catalog
Autosomal dominant pure hereditary spastic paraplegia
No MMS code
Link to WHO Definition
Autosomal dominant pure hereditary spastic paraplegia – http://id.who.int/icd/entity/1049082679
A term used to describe a group of clinically and genetically heterogenous disorders which are inherited in an autosomal dominant (AD) manner and in which the neurological features are limited to lower limb spasticity and pyramidal weakness, hyperreflexia, hypertonic bladder involvement and mild diminution of lower extremity vibration sense. A positive family history is often but not always present. The diagnosis may be aided by neuroimaging and genetic testing.
Parents
Children
- Autosomal dominant spastic paraplegia type 19
- Autosomal dominant pure hereditary spastic paraplegia due to mutations in Spastin gene
- Autosomal dominant spastic paraplegia type 13
- Autosomal dominant spastic paraplegia type 10
- Autosomal dominant spastic paraplegia type 3
- Autosomal dominant spastic paraplegia type 6
- Autosomal dominant spastic paraplegia type 31
- Autosomal dominant spastic paraplegia type 12
- Autosomal dominant spastic paraplegia type 42
- Autosomal dominant spastic paraplegia type 8
- Autosomal dominant spastic paraplegia type 4