amyotrophic lateral sclerosis type 5
Findings
No curated finding names amyotrophic lateral sclerosis type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.
Definition from the Mondo Disease Ontology (MONDO:0011196), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pyramidal signHPOHP:0007256
- 23 of 23 reported patients
- Distal amyotrophyHPOHP:0003693
- 23 of 23 reported patients
- Distal muscle weaknessHPOHP:0002460
- 23 of 23 reported patients
- Bulbar signsHPOHP:0002483
- 15 of 23 reported patients
- FasciculationsHPOHP:0002380
- 15 of 23 reported patients
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
- 2 of 23 reported patients
- Urinary incontinenceHPO
Show the remaining 4
- Babinski signHPOHP:0003487
- DysarthriaHPOHP:0001260
- HyperreflexiaHPOHP:0001347
- SpasticityHPOHP:0001257
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SPG11HGNC:11226
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: amyotrophic lateral sclerosis type 5
- Also called
- ALS5amyotrophic lateral sclerosis caused by mutation in SPG11SPG11 amyotrophic lateral sclerosis