In a recent study, Aryapadi & Trivedi (2025) described an unusual case of amyotrophic lateral sclerosis (ALS) in a patient with a specific genetic mutation. This patient had a slower progression of symptoms, mainly affecting the lower extremities, and did not experience the typical bulbar and respiratory issues often seen in ALS. The patient's condition was linked to a heterozygous H47R mutation in the SOD1 gene, which is known to cause familial ALS.
The report emphasizes the importance of recognizing atypical ALS presentations, which can be challenging for doctors to diagnose. It also highlights the potential of gene therapy as a treatment for familial ALS, particularly for those with SOD1 mutations. The case underscores the variability of ALS symptoms and the need for awareness among clinicians to ensure accurate diagnosis and treatment planning.
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