Spinal muscular Atrophy (SMA) is a group of genetic diseases that cause muscle weakness and wasting (atrophy) due to the loss of specialized nerve cells called motor neurons. These motor neurons, located in the spinal cord and brainstem, are crucial for controlling voluntary muscle movements like walking, breathing, and swallowing. SMA is primarily caused by mutations in the SMN1 gene, which lead to a deficiency in the SMN protein, essential for motor neuron survival and function. Key aspects of

Motor Neurone Disease (#MND) is a progressive disease that occurs when specialised nerve cells called motor neurons break down. Eventually, this leads to paralysis and difficulties with speech, swallowing and breathing. There are no therapies that can stop progression of MND – also known as amyotrophic lateral sclerosis (#ALS) or Lou Gehrig’s Disease – and little is known about why the disease strikes some but not others. Our researchers in the The Euan MacDonald Centre for Motor Neurone Disease