Spinální svalová atrofie a její diferenciální diagnostika. Kazuistika pacienta a jeho cesta za diagnózou // SOLEN

Neurológia pre prax 2/2025

Spinal muscular atrophy and its differential diagnosis. A patient's case report and his journey to diagnosis

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease characterized by degeneration of motor neurons, leading to muscle weakness and atrophy. Differential diagnosis of SMA can be challenging due to the same or similar symptoms with other neuromuscular diseases, leading to misinterpretation of disease symptoms and delayed diagnosis. We present a case report of a patient with spinal muscular atrophy who had been waiting for a correct diagnosis for 43 years.

Keywords: spinal muscular atrophy, muscular dystrophy, neuromuscular diseases, peripheral motor neuron