amyotrophic lateral sclerosis 27, juvenile
MONDO:0859529Mondo
Findings
No curated finding names amyotrophic lateral sclerosis 27, juvenile yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
26 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.
- Angulated muscle fibersHPOHP:0034045
- 1 of 1 reported patient
- Fiber type groupingHPOHP:0033685
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- Generalized amyotrophyHPOHP:0003700
- 3 of 3 reported patients
- Generalized muscle weaknessHPOHP:0003324
- 3 of 3 reported patients
- Intrinsic hand muscle atrophyHPOHP:0008954
- 1 of 1 reported patient
- Lower limb muscle weaknessHPOHP:0007340
- 1 of 1 reported patient
- Progressive muscle weaknessHPOHP:0003323
- 11 of 11 reported patients
- Quadriceps muscle atrophyHPOHP:0009050
- 1 of 1 reported patient
- Tongue atrophyHPOHP:0012473
- 3 of 3 reported patients
- Tongue fasciculationsHPOHP:0001308
- 3 of 3 reported patients
- Loss of ambulationHPOHP:0002505
- 10 of 14 reported patients
Show the remaining 14
- Gowers signHPOHP:0003391
- 2 of 3 reported patients
- HyporeflexiaHPOHP:0001265
- 2 of 3 reported patients
- Impaired executive functioningHPOHP:0033051
- 2 of 3 reported patients
- Jaw hyperreflexiaHPOHP:0033683
- 2 of 3 reported patients
- Pes cavusHPOHP:0001761
- 2 of 3 reported patients
- Steppage gaitHPOHP:0003376
- 2 of 3 reported patients
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.
- SPTLC1HGNC:11277
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025