Juvenile amyotrophic lateral sclerosis

General Information (adopted from Orphanet):

Synonyms, Signs: JALS
Juvenile Charcot disease
Juvenile Lou-Gehrig disease
Number of Symptoms 33
OrphanetNr: 300605
OMIM Id: 205100
602099
614373
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic motor neuron disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
2
 (HPO:0000183) Difficulty in tongue movements 4 / 7739
3
 (HPO:0002307) Drooling 43 / 7739
4
 (HPO:0002491) Spasticity of facial muscles 3 / 7739
5
 (HPO:0002193) Pseudobulbar behavioral symptoms 2 / 7739
6
 (HPO:0002064) Spastic gait 46 / 7739
7
 (HPO:0002127) Abnormal upper motor neuron morphology 15 / 7739
8
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
9
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
10
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
11
 (HPO:0006986) Upper limb spasticity 15 / 7739
12
 (HPO:0002501) Spasticity of pharyngeal muscles 3 / 7739
13
 (HPO:0002464) Spastic dysarthria 5 / 7739
14
 (HPO:0001332) Dystonia rare [HPO:skoehler] 197 / 7739
15
 (HPO:0007256) Abnormal pyramidal signs Very frequent [Orphanet] 116 / 7739
16
 (HPO:0003474) Sensory impairment Occasional [Orphanet] 54 / 7739
17
 (HPO:0000712) Emotional lability Frequent [Orphanet] 44 / 7739
18
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
19
 (HPO:0007354) Amyotrophic lateral sclerosis 25 / 7739
20
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
21
 (HPO:0002061) Lower limb spasticity 56 / 7739
22
 (HPO:0001285) Spastic tetraparesis 29 / 7739
23
 (HPO:0002015) Dysphagia 301 / 7739
24
 (HPO:0002366) Abnormal lower motor neuron morphology 12 / 7739
25
 (HPO:0002425) Anarthria 5 / 7739
26
 (HPO:0003487) Babinski sign 179 / 7739
27
 (HPO:0009130) Hand muscle atrophy 11 / 7739
28
 (HPO:0003444) EMG: chronic denervation signs 5 / 7739
29
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
30
 (HPO:0003693) Distal amyotrophy 118 / 7739
31
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: