Conditions / Nervous system
C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis
info · Nervous system
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
Signs and symptoms
- Abnormal lower motor neuron morphology
- Skeletal muscle atrophy
- Extrapyramidal dyskinesia
- Cerebral atrophy
- Parkinsonism
- Dyscalculia
- Frontotemporal dementia
- Apraxia
- Paraparesis
- Dysarthria
Also known as: ALSFTD; C9orf72-FTD/ALS; FTDALS1; FTDMND; amyotrophic lateral sclerosis and/or frontotemporal dementia