Spinal Muscular Atrophy: The Treatment Approved
Rabih Tabet, Sandy El Bitar, Julie Zaidan, Garbis Dabaghian
Abstract
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Rabih Tabet, Sandy El Bitar, Julie Zaidan, Garbis Dabaghian
Abstract
Open-access reader
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required.
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Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required.
Key concepts: Spinal muscular atrophy, Medicine, SMA*, Weakness, Atrophy, Neuromuscular disease, Respiratory failure, Muscle weakness