AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA

General Information (adopted from Orphanet):

Synonyms, Signs: ALS-DEMENTIA COMPLEX
Number of Symptoms 4
OrphanetNr:
OMIM Id: 205200
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:0007354) Amyotrophic lateral sclerosis 25 / 7739
2
(HPO:0000726) Dementia 131 / 7739
3
(HPO:0003693) Distal amyotrophy 118 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hoffmann (1894) described slowly progressive juvenile amyotrophic lateral sclerosis with concomitantly progressive dementia in 4 sibs. Staal and Went (1968) described 7 sibs (out of 15), offspring of a first-cousin marriage, affected by the same disorder. Three boys ...