Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

Alternative Names

  • FTDALS7
  • Amyotrophic Lateral Sclerosis 17
  • ALS17
  • Frontotemporal Dementia, Chromosome 3-Linked
  • FTD3
  • Amyotrophic Lateral Sclerosis, CHMP2B-Related
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WHO-ICD-10 version:2010

Diseases of the nervous system

OMIM Number

600795

Mode of Inheritance

Autosomal dominant

Gene Map Locus

3p11.2

Description

Frontotemporal dementia and/or amyotrophic lateral sclerosis-7 (FTDALS7) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD in adulthood. Some patients have ALS, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency, whereas others have FTD, manifest as behavioral and personality changes, memory loss, cognitive decline, and disinhibition. A few patients may have both phenotypes. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
600795.1Saudi ArabiaFemaleNoNo Progressive muscle weakness; Short statu...NM_014043.4:c.85A>GHeterozygousAutosomal, DominantMonies et al. 2017
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