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Juvenile amyotrophic lateral sclerosis
3 OMIM references -
4 associated genes
101 connected diseases
12 signs/symptoms
Disease Type of connection
Amyotrophic lateral sclerosis
Frontotemporal dementia with motor neuron disease
Autosomal recessive spastic paraplegia type 11
Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Autosomal dominant nonsyndromic intellectual deficit
Extraskeletal myxoid chondrosarcoma
Translocation renal cell carcinoma
Anaplastic ependymoma
Peripheral resistance to thyroid hormones
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Melanoma of soft part
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
CLN3 disease
Craniopharyngioma
Desmoid tumor
Fibronectin glomerulopathy
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Estrogen resistance syndrome
17q11 microdeletion syndrome
46,XY partial gonadal dysgenesis
Acute infantile liver failure-multisystemic involvement syndrome
Adult-onset distal myopathy due to VCP mutation
Autosomal agammaglobulinemia
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Behavioral variant of frontotemporal dementia
Cabezas syndrome
Charcot-Marie-Tooth disease type 4G
Combined immunodeficiency due to STK4 deficiency
Congenital bilateral absence of vas deferens
Cystic fibrosis
Dedifferentiated liposarcoma
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Fuchs endothelial corneal dystrophy
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hereditary chronic pancreatitis
Hyperinsulinism due to INSR deficiency
Idiopathic bronchiectasis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Insulin-resistance syndrome type A
Leprechaunism
Male infertility with normal virilization due to meiosis defect
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Pallister-Hall syndrome
Papillary or follicular thyroid carcinoma
Pitt-Hopkins syndrome
Precursor B-cell acute lymphoblastic leukemia
Primary sclerosing cholangitis
Progressive non-fluent aphasia
Pseudohypoaldosteronism type 2E
Rabson-Mendenhall syndrome
Romano-Ward syndrome
Semantic dementia
Spastic paraplegia - Paget disease of bone
Weaver syndrome
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Young adult-onset Parkinsonism
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Hereditary pheochromocytoma-paraganglioma
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Omenn syndrome
Progeria-associated arthropathy
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Synonym(s):
- JALS
- Juvenile Charcot disease
- Juvenile Lou Gehrig disease
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: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ALS2 Q96Q42606352
FUS P35637137070
SIGMAR1 Q99720601978
SPG11 Q96JI7610844
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