Seven genes are associated with FTD-MND in this packet: C9ORF72 (C9orf72-SMCR8 complex subunit), CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10), FUS (FUS RNA binding protein), SQSTM1, TARDBP, TBK1, and VCP. All gene associations are classified as deterministic in this packet. No ClinGen validity classifications are recorded. No inheritance pattern data are available.

Diagnostic criteria are not detailed in this packet beyond the clinical characterization provided in the definition—combining frontotemporal dementia features with motor neuron disease manifestations, with onset typically between ages 38 and 78. Two GeneReviews chapters are linked to this entry: CHCHD10-Related Disorders and Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia. Clinical section content is not available from either chapter in this packet.

No approved treatments are listed in this packet for FTD-MND. Two orphan drug entries are recorded: Ciliary neurotrophic factor, recombinant human (Syntex-Synergen Neuroscience), which carries a WITHDRAWN status, and Neurotrophin-1 (Ericsson, Arthur Dale, M.D.), which holds designated status without approval. The withdrawn orphan designation for ciliary neurotrophic factor does not represent an approved or currently available treatment.

The condition is described in this packet as progressive. Death typically occurs 2 to 5 years after disease onset. The clinical course includes progressive deterioration of cognitive and language function, culminating in mutism, alongside progressive motor neuron disease manifestations.

Six clinical trials are active or recently recruiting for FTD-MND or closely related conditions. These include a study of PBFT02 in participants with FTD and granulin gene mutations (NCT04747431), the ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration study (NCT04363684), an acamprosate trial targeting C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis (NCT07204977), a presymptomatic familial ALS study (NCT00317616), and the Neurofilament Surveillance Project (NCT04516499).