AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE

General Information (adopted from Orphanet):

Synonyms, Signs: ALS16
Number of Symptoms 12
OrphanetNr:
OMIM Id: 614373
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002366) Abnormal lower motor neuron morphology 12 / 7739
2
(HPO:0007354) Amyotrophic lateral sclerosis 25 / 7739
3
(HPO:0002127) Abnormal upper motor neuron morphology 15 / 7739
4
(HPO:0001347) Hyperreflexia 363 / 7739
5
(HPO:0001257) Spasticity 251 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Muscle weakness, distal, upper and lower 1 / 7739
8
(OMIM) Limb muscle weakness, upper and lower 3 / 7739
9
(OMIM) Normal cognition 7 / 7739
10
(OMIM) Neurophysiologic studies show evidence of denervation and renervation 1 / 7739
11
(HPO:0003677) Slow progression 134 / 7739
12
(OMIM) Enlarged motor unit action potentials 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Al-Saif et al. (2011) reported a consanguineous Saudi Arabian family in which 6 individuals had early-childhood onset of a neurologic disorder consistent with juvenile ALS, according to the El Escorial criteria (Brooks, 1994). Lower limb spasticity with hyperreflexia ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene sequencing, Al-Saif et al. (2011) identified a homozygous pathogenic mutation in the SIGMAR1 gene (601978.0001) in affected members of a consanguineous Saudi Arabian family with early-childhood onset of ALS.