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Facial Numbness, Dysarthria, Muscle Atrophy, and Weakness in a Young Patient

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 19-year-old man presented with 4 years of facial numbness and 3 years of progressive dysarthria and dysphagia. Additionally, 18 months prior to presentation, he also developed arm weakness and hand atrophy followed by leg weakness 1 year later.

On examination, dysarthria, bilateral peripheral facial paralysis (Figure, A), reduced facial touch and vibration sensitivity in the mandible, temporal muscle atrophy (Figure, B), and poor soft palate motility were observed. Corneal reflexes were bilaterally absent. Deltoid, calf, and distal muscle atrophy (Figure, C) and weakness (right extensor carpi, Medical Research Council [MRC] grade 0; neck flexion, MRC grade 4; proximal muscles, MRC grade 3; other arm distal muscles, MRC grade 2-3; leg distal muscles, MRC grades 2-4) were observed. Absence of the bilateral biceps and triceps reflexes, right patellar tendon hyperreflexia, discontinuous clonus in the left knee, a Babinski sign present on the right side, and an unstable and steppage gait were also observed.

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B. Facial onset sensory and motor neuronopathy

Evidence of motor dysfunction in multiple cranial nerves, marked distal muscle weakness and atrophy, and significant neurogenic lesions on muscle biopsy indicate axonal damage of multiple nerves or lesions of motor nuclei of the brainstem and spinal anterior horn. Meanwhile, facial sensory disturbance and the absence of the blink reflex suggests trigeminal nerve involvement. Juvenile and insidious onset and unrelenting gradual disease progression are indicative of genetic, degenerative, and metabolic diseases.

Lesions with sensory and motor neuron involvement, including syringomyelia and syringobulbia, Sjögren syndrome, vasculitis, certain metabolic disorders, and immune-mediated peripheral neuropathy were precluded by negative laboratory, neuroimaging, and neurophysiological results. The normal lipid profile excluded Tangier disease, a rare autosomal recessive disorder with variants in the ATP-binding cassette transporter 1 gene (ABC1), characterized by reduced high-density lipoprotein and apolipoprotein A through I.1 Multiple axonal sensorimotor neuropathy, in conjunction with pyramidal signs, may be linked to Charcot-Marie-Tooth neuropathy type 2 with KIF5A, GDAP1, SPG11, MFN2, and GJB1 variants2; however, facial and trigeminal nerve involvement is rare. The involvement of upper and lower motor neurons may be linked to amyotrophic lateral sclerosis (ALS); however, clinical symptoms related to sensory involvement and the absence of the blink reflex could not be explained by an ALS diagnosis.

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Article Information

Corresponding Author: Fei Xiao, MD, Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, 1st You Yi Rd, Chongqing 400016, China (feixiao81@126.com).

Conflict of Interest Disclosures: None reported.

Published Online: July 12, 2021. doi:10.1001/jamaneurol.2021.2136

Author Contributions: Drs Liu and Luo contributed equally to this work.

Funding/Support: This work is supported by the Science and Technology Research Program of Chongqing Municipal Education Commission (grant KJQN201800420) and the Fifth Senior Medical Talents Program of Chongqing for Yong and Middle-aged.

Role of the Funder/Sponsor: The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

Additional Contributions: We thank the patient for granting permission to publish this information.

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Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
  • 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
  • 1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
  • 1.00 CME points in the American Board of Surgery’s (ABS) Continuing Certification program

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