frontotemporal dementia with motor neuron disease
Findings
No curated finding names frontotemporal dementia with motor neuron disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.
Definition from the Mondo Disease Ontology (MONDO:0017161), read 2026-09-29. CC BY 4.0.
Features
35 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 lower motor neuron morphologyHPOHP:0002366
- Very frequent (80% to 99% of cases)
- Abnormal upper motor neuron morphologyHPOHP:0002127
- Very frequent (80% to 99% of cases)
- Frontotemporal dementiaHPO · MondoHP:0002145
- Very frequent (80% to 99% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Frequent (30% to 79% of cases)
- ApathyHPOHP:0000741
- Frequent (30% to 79% of cases)
- ApraxiaHPOHP:0002186
- Frequent (30% to 79% of cases)
Show the remaining 23
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Generalized amyotrophyHPOHP:0003700
- Frequent (30% to 79% of cases)
- GliosisHPOHP:0002171
- Frequent (30% to 79% of cases)
- HallucinationsHPOHP:0000738
- Frequent (30% to 79% of cases)
- Neuronal loss in the cerebral cortexHPOHP:0007190
- Frequent (30% to 79% of cases)
- ParaparesisHPOHP:0002385
- Frequent (30% to 79% of cases)
Genes
5 genes
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
- Supportive · Orphanet · Autosomal dominant · 2021
- SQSTM1HGNC:11280
- Supportive · Orphanet · Autosomal dominant · 2021
- TARDBPHGNC:11571
- Supportive · Orphanet · Autosomal dominant · 2021
- TBK1HGNC:11584
- Supportive · Orphanet · Autosomal dominant · 2021
- VCPHGNC:12666
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (7)
- amyotrophic lateral sclerosis type 10
- amyotrophic lateral sclerosis type 6
- frontotemporal dementia and/or amyotrophic lateral sclerosis 1
- frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- frontotemporal dementia and/or amyotrophic lateral sclerosis 3
- frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Other names
5 names
Resolves to: frontotemporal dementia with motor neuron disease
- Also called
- frontotemporal dementia with ALSfrontotemporal dementia with amyotrophic lateral sclerosisFTD-ALSFTD-MNDFTDALS