ODCs

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3 OMIM references -
4 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Juvenile amyotrophic lateral sclerosis

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FUS	(0.49)	DYNC1H1

Citations in the biomedical literature:

Juvenile amyotrophic lateral sclerosis		Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
	Synonym(s): - JALS - Juvenile Charcot disease - Juvenile Lou Gehrig disease		Synonym(s): - Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures - SMALED1

	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: childhood Average age of death: adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Juvenile amyotrophic lateral sclerosis
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Autosomal recessive inheritance - Elocution disorders / dysarthria / dysphonia - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Motor deficit / trouble - Pyramidal syndrome Frequent - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Pseudobulbar signs / spasmodic laugh and cry Occasional - Bladder and ureter anomalies - Sensitive trouble / deficit
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
(no data available)