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3 OMIM references -
4 associated genes
12 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
13 signs/symptoms
Juvenile amyotrophic lateral sclerosis
Autosomal recessive spastic paraplegia type 11

ALS2 SPG11
FUS
SIGMAR1
SPG11


COMMON
GENES
SPG11



Citations in the biomedical literature:


Juvenile amyotrophic lateral sclerosis
ALS2 FUS SIGMAR1 SPG11
Autosomal recessive spastic paraplegia type 11



Juvenile amyotrophic lateral sclerosis
Autosomal recessive spastic paraplegia type 11

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

Synonym(s):
- Nakamura-Osame syndrome
- SPG11
- Spastic paraplegia - intellectual deficit - thin corpus callosum

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537483 / C538335


COMMON
SIGNS
- Abnormal gait
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness


Juvenile amyotrophic lateral sclerosis
Autosomal recessive spastic paraplegia type 11

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Autosomal recessive inheritance
- Elocution disorders / dysarthria / dysphonia
- 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
- Abnormal eye movements / oculomotor disorder
- Ataxia / incoordination / trouble of the equilibrium
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Areflexia / hyporeflexia
- Functional anomalies of the nervous system