Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
10 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 9
1 OMIM reference -
2 associated genes
16 signs/symptoms
Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis

ALS2 ALS2
ERLIN2


COMMON
GENES
ALS2



Citations in the biomedical literature:


Infantile-onset ascending hereditary spastic paralysis
ALS2
Juvenile primary lateral sclerosis
ERLIN2



Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis

Synonym(s):
- IAHSP

Synonym(s):
- JPLS
- Juvenile PLS

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

Classification (ICD10):
- Diseases of the nervous system -
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
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536416


COMMON
SIGNS
- 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
- Pseudobulbar signs / spasmodic laugh and cry
- Pyramidal syndrome
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis

Frequent
- Abnormal eye movements / oculomotor disorder



Very frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Motor deficit / trouble
- Muscle weakness / flaccidity

Occasional
- Bladder and ureter anomalies
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Sensitive trouble / deficit