AMYOTROPHIC LATERAL SCLEROSIS 5

General Information (adopted from Orphanet):

Synonyms, Signs: ALS5
Number of Symptoms 14
OrphanetNr:
OMIM Id: 602099
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001257) Spasticity 251 / 7739
2
 (HPO:0002380) Fasciculations 42 / 7739
3
 (HPO:0002366) Abnormal lower motor neuron morphology 12 / 7739
4
 (HPO:0001260) Dysarthria 329 / 7739
5
 (HPO:0003487) Babinski sign 179 / 7739
6
 (HPO:0007354) Amyotrophic lateral sclerosis 25 / 7739
7
 (HPO:0001347) Hyperreflexia 363 / 7739
8
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
9
 (HPO:0002460) Distal muscle weakness 122 / 7739
10
 (HPO:0003693) Distal amyotrophy 118 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (HPO:0003621) Juvenile onset 105 / 7739
13
 (HPO:0002483) Bulbar signs 9 / 7739
14
 (HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain and spinal cord, resulting in fatal paralysis (summary by Hentati et al., 1998).
Clinical Description OMIM Hentati et al. (1998) reported 22 patients with ALS from 7 families (4 Tunisian, 2 Pakistani, and 1 German). The patients from Tunisia and Pakistan presented at ages ranging from 8 to 18 years with difficulty in walking ...
Molecular genetics OMIM - Exclusion Studies

Cox et al. (2001) sequenced the TMOD2 gene (602928), which is located on chromosome 15q21, in 2 patients and controls from a family with ALS5 and did not detect any mutations.