lower motor neuron syndrome with late-adult onset
MONDO:0014025Mondo
Findings
No curated finding names lower motor neuron syndrome with late-adult onset 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
- Middle age onset · Late young adult onset
HPO, annotations 2026-09-02
Features
29 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.
- AreflexiaHPOHP:0001284
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- 5 of 5 reported patients
- Muscle weaknessHPOHP:0001324
- 5 of 5 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- 4 of 5 reported patients
- Cold-induced muscle crampsHPOHP:0003449
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- EMG: neuropathic changesHPOHP:0003445
- Frequent (30% to 79% of cases)
- Exercise-induced muscle crampsHPOHP:0003710
- Frequent (30% to 79% of cases)
- FasciculationsHPOHP:0002380
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Gastrocnemius myalgiaHPOHP:0031921
- Frequent (30% to 79% of cases)
Reported absent (1)
- Upper motor neuron dysfunctionHPOHP:0002493
Show the remaining 17
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- Increased intramuscular fatHPOHP:0008985
- Frequent (30% to 79% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Frequent (30% to 79% of cases)
- Abnormal sensory nerve conduction velocityHPOHP:0040132
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Occasional (5% to 29% of cases)
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.
- CHCHD10HGNC:15559
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of