amyotrophic lateral sclerosis type 4
Findings
No curated finding names amyotrophic lateral sclerosis type 4 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 SETX gene.
Definition from the Mondo Disease Ontology (MONDO:0011223), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
20 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.
- Atrophy of the spinal cordHPOHP:0006827
- 2 of 2 reported patients
- Degeneration of anterior horn cellsHPOHP:0002398
- 2 of 2 reported patients
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- Gait disturbance
Show the remaining 8
- Axonal degenerationHPOHP:0040078
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- Diffuse axonal swellingHPOHP:0003405
- Distal amyotrophyHPOHP:0003693
- EMG: positive sharp wavesHPOHP:0030007
- HyperreflexiaHPOHP:0001347
- Muscle fibrillationHPOHP:0010546
- Pallor of dorsal columns of the spinal cordHPOHP:0006825
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.
- SETXHGNC:445
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: amyotrophic lateral sclerosis type 4
- Also called
- ALS 4ALS4amyotrophic lateral sclerosis 4, juvenileamyotrophic lateral sclerosis caused by mutation in SETXdHMN with upper motor neuron signsdistal hereditary motor neuropathy with upper motor neuron signsSETX amyotrophic lateral sclerosis