Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

System/ConcernEvaluationComment
Neurologic Complete neurologic exam
  • UMN involvement: assess spasticity, Babinski signs, hyperreflexia
  • LMN involvement: assess weakness, amyotrophy, fasciculations; perform EMG
Cognitive function Neuropsychological examEvaluate extent & profile of cognitive disturbance
Musculoskeletal/ADL Orthopedics / physical medicine & rehab / PT evalTo incl assessment of:
  • Muscle tone; joint range of motion; posture; mobility; strength, coordination, & endurance; pain; bedsores
  • Need for adaptive devices
  • Footwear needs
  • Physical therapy needs
  • Need for assistive walking devices (e.g., cane, walker, walker w/wheels, walker w/seat, wheelchair)
OT evalTo assess:
  • Fine motor function (e.g., hands, feet, face, fingers, & toes)
  • Home adaptations for ADL & safety
Eval of driving safetyIn case of cognitive impairment & impaired judgement, driving safety should be evaluated.
Psychiatric illness History of psychiatric illness 1
  • Attention to possible alcohol or drug abuse
  • Referral for psychiatric eval as needed
Dysarthria For those w/dysarthria: eval by speech-language pathologistReferral to speech-language pathologist as needed
Dysphagia For those w/frequent choking or severe dysphagia, assess nutritional status & aspiration riskConsider involving a gastroenterologist, nutritionist, feeding team, &/or speech-language pathologist, incl formal swallowing eval.
Respiratory function By pulmonologistAssess respiratory function & need for respiratory support.
Genetic counseling By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of TARDBP-ALS-FTD to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
  • Community or online resources;
  • Social work involvement for parental support;
  • Home nursing referral.
  • Early discussion of advanced care planning
  • The affected person's perspective & burden must be taken into account for clinical decision making.
  • The presence of cognitive impairment may raise ethical concerns.

ADL = activities of daily living; LMN = lower motor neuron; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; UMN = upper motor neuron

1.
2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2025.
Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2025 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.