Early-Onset Amyotrophic Lateral Sclerosis Variant and Importance of Rehabilitation

Case Diagnosis: Amyotrophic Lateral Sclerosis (ALS) Variant

Case Description or Program Description: A 33-year-old right-hand dominant female presented to her primary care with seven months of right hand weakness and neck pain, associated with decreased fine hand movements. Symptoms persisted following a course of physical therapy and she later began to report muscle twitching. Examination revealed right hand weakness and thenar atrophy. At spine clinic two months later, she exhibited bilateral brisk reflexes, positive Hoffman and Babinski signs, and decreased grip strength, as well as sustained right ankle clonus. The patient denied bulbar symptoms. The patient also reported difficulty performing activities of daily living (ADLs) at this time and was sent for an emergent cervical MRI to rule out cervical spondylosis with myelopathy, which was unremarkable. Finally, electromyography (EMG) confirmed the diagnosis of a rare ALS variant.

Setting: Tertiary care hospital

Assessment/Results: The patient was started on riluzole and her initial revised ALS functional rating scale (ALSFRS-R) score was 43. She began once weekly physical therapy and home exercises three times per week, incorporating electrical stimulation, therapeutic exercise, manual therapy, and gait training. After six therapy sessions, she reported increased confidence in ADLs. Within three months, her ALSFRS-R score had decreased to 42, while the average patient’s ALSFRS-R score decreases by one point per month.

Discussion (relevance): The ALS variant brachial amyotrophic diplegia (BAD) is a motor neuron disease involving the cervical spinal cord with lower motor neuron symptoms manifesting in the upper extremities. The mean age of BAD diagnosis ranges between 53 and 57 years old. This case highlights a unique early-onset presentation of a rare ALS variant, emphasizing the importance of early diagnosis and intervention.

Conclusions: The patient was diagnosed while weakness remained limited to the bilateral forearms, allowing for timely therapeutic strategies. Aggressive physical therapy may help patients maintain strength and confidence in their ADLs.