A recent case report highlights a patient with progressive muscular atrophy (PMA) symptoms carrying an ERBB4 gene mutation, associated with a variant of amyotrophic lateral sclerosis (ALS). This suggests a genetic overlap between PMA and certain ALS forms, indicating ERBB4 mutations may contribute to ALS pathology.
The report underscores the complexity of ALS diagnosis due to overlapping clinical features with other motor neuron diseases. Genetic testing provides crucial insights into specific ALS variants. Identifying mutations like ERBB4 may improve diagnosis and guide future research into targeted therapies. This emphasizes the importance of genetic screening in managing ALS subtypes, as noted by Panganiban (2025).
Clinical Trials
This is a list of upcoming or ongoing clinical trials that are actively recruiting and have been listed or updated in the last two weeks: