Inspired by growing advocacy efforts, including Jesy Nelson becoming a patron of SMA UK, this month we are spotlighting Spinal Muscular Atrophy (SMA) and why early detection plays such a crucial role in improving outcomes. What is Spinal Muscular Atrophy? Spinal Muscular Atrophy (SMA) is a rare, genetic neuromuscular condition caused by a change in the SMN1 gene. This gene produces SMN protein, essential for the survival of motor neurons. Without enough SMN protein, motor neurons in the spinal cord break down, disrupting the brain’s ability to send signals to the muscles. As a result, individuals experience progressive muscle weakness and wasting (atrophy), affecting movement, swallowing and breathing. How SMA is inherited SMA is inherited in an autosomal recessive pattern meaning a child must inherit two copies of the faulty SMN1 gene (one from each parent) to develop the condition. Approximately 1 in 10,000 babies are born with SMA and around 1 in 40 people are carriers, often without knowing it. Types of SMA SMA varies in severity and age of onset: -Type 0: Extremely rare, symptoms start before birth and are life‑limiting within weeks -Type 1: Severe symptoms appearing between birth and 6 months -Type 2: Onset between 7–18 months with moderate weakness -Type 3a: Diagnosed between 18 months and 3 years -Type 3b: Symptoms beginning after age 3 -Type 4: Adult-onset, typically mild Because SMA affects motor function, early signs often relate to movement, strength, and muscle control. Symptoms depend on the SMA type but may include: In infants: -Weak muscle tone (a “floppy baby”) -Poor head control -Delayed motor milestones (e.g., not sitting or rolling) -Weak cry or cough -Difficulty feeding or swallowing -Tongue twitching In toddlers and older children: -Frequent falls -Difficulties standing or climbing stairs -Waddling gait -Tremors in fingers -Progressive loss of mobility In adults (Type 4): -Gradual muscle weakness -Trouble with balance or walking -Recognising these early symptoms is vital, as modern SMA treatments work best before weakness begins. Diagnosing and Managing SMA SMA requires coordinated care from a multidisciplinary team, often led by a neurologist. Care teams support: -Monitoring disease progression -Respiratory and nutritional management -Physiotherapy and mobility support -Access to treatment and clinical trials Innovative tools are emerging, such as soft‑robotics paired with virtual reality, developed by Professor Liang He at Oxford University, to make physiotherapy more engaging for children with SMA. Why Early Detection Matters While there is no cure for SMA, several treatments can slow disease progression, increase SMN protein levels and improve mobility and quality of life. These treatments, including gene therapy, intrathecal therapies and oral medications, are most effective when administered before symptoms begin. Approved treatments include: -Zolgensma: A one‑time gene therapy delivering a functional SMN1 gene -Nusinersen (Spinraza): An intrathecal treatment that boosts SMN protein -Risdiplam (Evrysdi): An oral therapy that increases SMN protein levels Research shows dramatically better outcomes when treatment is given in newborns identified through early screening. Some infants treated presymptomatically experience normal or near‑normal development. More detail can be found here The Power of Advocacy Public figures like Jesy Nelson, whose twin girls were diagnosed with SMA Type 1, are helping to drive critical awareness and policy change. Jesy is leading a petition calling for Spinal Muscular Atrophy to be added to the routine heel‑prick test (newborn blood spot screening) offered at 5 days old. Adding SMA to this test could make a life‑changing difference by enabling: -Earlier detection and diagnosis, often before symptoms appear -Faster access to treatment, when therapies work best -Reduced irreversible muscle damage -Better long‑term outcomes and quality of life Currently, SMA screening is usually only offered when an older sibling is known to have the condition, leaving many families without early detection. Broadening newborn screening remains a critical unmet need to allow us to identify and address SMA at a stage where current (and future) treatments are likely to have the biggest impact. If you would like to learn more about our experiences working in SMA, please reach out to HRW_Synapse@hrwhealthcare.com or fill in the Contact form below. Apply Now!