Year: 2024 | Month: April | Volume: 11 | Issue: 4 | Pages: 209-214
DOI: https://doi.org/10.52403/ijrr.20240423
A Rare Case of Juvenile Amyotrophic Lateral Sclerosis
Aurelia Vania1, I Komang Arimbawa2
1,2Neurology Department, Faculty of Medicine Udayana University / Prof. Dr. I.G.N.G. Ngoerah General Hospital, Bali, Indonesia
Corresponding Author: Aurelia Vania
ABSTRACT
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder affecting both upper and lower motor neurons. The term Juvenile ALS (JALS) is used for patients with symptoms onset before the age of 25. This report is written to discuss the clinical presentation of JALS, a highly rare form of motor neuron disease. We report a 25-year-old male patient with JALS who presented to the neurology clinic with complaints of progressive weakness in the upper and lower extremities since the age of 21. The patient also experienced speech disturbance. There was no family history found. Neurological examination revealed mixed upper and lower motor neuron weakness and muscle atrophy in the upper and lower extremities, as well as dysarthria with tongue muscle atrophy. Magnetic Resonance Imaging of the spinal cord with contrast did not show significant findings. Nerve conduction study found axonal lesions in motor neurons and normal sensory neurons. Electromyography showed signs of active and chronic denervation of the masseter muscle, thoracic paravertebral muscles, and muscles of the upper and lower extremities. This patient met the criteria for clinically definite ALS according to the revised El Escorial criteria. Approximately 5% of ALS cases are estimated to occur in individuals under the age of 30. Most JALS cases are familial, but some occur sporadically without a family history. The prognosis of the disease varies from rapidly progressive to slow progression. The diagnosis of JALS is based on the development of a clinical syndrome that meets the diagnostic criteria for ALS with onset before the age of 25. JALS is a diagnosis to be considered in young adults with combined clinical manifestations of upper and lower motor neuron dysfunction with bulbar palsy, although it is a rare disease.
Keywords: clinical manifestations, diagnosis, juvenile amyotrophic lateral sclerosis
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