Electrodiagnostic / Neuromuscular Medicine
Austin Peralta-Fogle, MD
Resident; Physical Medicine & Rehabilitation
UT Austin at Dell Medical School
Austin, Texas, United States
Jane Tu, MS
Medical Student
Dell Medical School
Austin, Texas, United States
Ai Mukai, MD
Attending Physician
Texas Orthopedics
Austin, Texas, United States
Austin Peralta-Fogle, MD
UT Austin at Dell Medical School
Austin, Texas, United States
A 72-year-old male with a known diagnosis of FTD was referred by their Orthopedist for electrodiagnostic workup of progressive bilateral hand weakness and atrophy suspected to be Carpal Tunnel Syndrome. The study revealed severe axonal motor neuropathy of bilateral median and ulnar nerves with active denervation findings distally. Rapid progression and upper motor neuron findings prompted neuromuscular specialist referral.
Further history revealed a progressive cognitive and physical decline. Following his FTD diagnosis, the patient developed generalized muscle fasciculations, bulbar symptoms, and dexterity loss. Neuromuscular assessment revealed findings highly suspicious of ALS-FTD. Genetic workup for commonly associated genes was negative; however, further genetic workup and broader electrodiagnostic workup did not occur due to the patient’s rapid decline. Disease progression prompted the specialist team to evaluate goals of care with the patient and family, eventually transitioning to hospice care. The patient later died two months after their initial “Carpal Tunnel Syndrome” workup.
Discussions: This case underscores both the need for vigilance during seemingly routine electrodiagnostic studies, and the clinical challenge of diagnosing ALS-FTD. The patient’s neuromuscular diagnosis was supported by their symptom constellation, PET scan, and electrodiagnostic findings. Their cognitive decline masked their progressive muscular weakness, delaying earlier workup. Early PM&R involvement provided key functional insight and triggered neuromuscular specialist referral, enabling a more comprehensive diagnosis and care approach.
Conclusions: ALS should always be on the differential when performing electrodiagnostic studies in patients with progressive motor weakness, especially when bulbar symptoms or rapid functional decline are present; ALS-FTD must be considered for those with early cognitive symptoms. Physiatrists are well-positioned to detect atypical disease progression and facilitate diagnosis and care through multidisciplinary collaboration.
