Cytoscape Web
Click node...


Infantile-onset ascending hereditary spastic paralysis
1 OMIM reference -
1 associated gene
9 connected diseases
10 signs/symptoms
Disease Type of connection
Juvenile amyotrophic lateral sclerosis
Juvenile primary lateral sclerosis
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Synonym(s):
- IAHSP

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
ALS2 Q96Q42606352
Very frequent
- Autosomal recessive inheritance
- Elocution disorders / dysarthria / dysphonia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Pyramidal syndrome
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Abnormal eye movements / oculomotor disorder
- Pseudobulbar signs / spasmodic laugh and cry