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3 OMIM references -
4 associated genes
12 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
2 associated genes
4 signs/symptoms
Juvenile amyotrophic lateral sclerosis
Myxoid/round cell liposarcoma

ALS2 DDIT3
FUS FUS
SIGMAR1
SPG11


COMMON
GENES
FUS



Citations in the biomedical literature:


Juvenile amyotrophic lateral sclerosis
ALS2 FUS SIGMAR1 SPG11
Myxoid/round cell liposarcoma
DDIT3



Juvenile amyotrophic lateral sclerosis
Myxoid/round cell liposarcoma

Synonym(s):
- JALS
- Juvenile Charcot disease
- Juvenile Lou Gehrig disease

Synonym(s):
- MRCLS

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

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

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: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D018208

Juvenile amyotrophic lateral sclerosis
Myxoid/round cell liposarcoma

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


Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Acute abdominal pain / colic
- Intestinal transit disorder