Infantile spinal muscular atrophy: A neuromuscular condition affecting infants, characterized by muscle wasting and weakness, commonly affecting the respiratory and swallowing muscles.

Infantile spinal muscular atrophy: A neuromuscular condition affecting infants, characterized by muscle wasting and weakness, commonly affecting the respiratory and swallowing muscles.

Infantile Spinal Muscular Atrophy (SMA), a severe genetic neuromuscular disorder, has long been associated with a grim prognosis. However, recent advancements in medical research have significantly improved the outlook for affected infants.

The Impact of Early Diagnosis

Early diagnosis of Infantile SMA is vital for effective management and treatment. Symptoms such as muscle weakness, difficulty swallowing, breathing difficulties, fasciculations, and joint contractures can be recognised, leading to timely intervention. Genetic testing can confirm the presence of the SMN1 gene mutation, enabling prompt action.

A Brighter Future for Affected Infants

Without treatment, less than 25% of infants survive beyond 14 months, often relying on permanent breathing support such as tracheostomy or ventilation. However, the future outlook for children diagnosed with Infantile SMA has significantly improved.

Treatments such as gene therapy can significantly improve the quality of life for affected children. One such example is Onasemnogene abeparvovec (Zolgensma®), a gene therapy that delivers a functional copy of the SMN1 gene via a one-time intravenous infusion. This enables long-term production of the survival motor neuron (SMN) protein, improving muscle function and survival.

SMN2 splicing modifier therapies, like Risdiplam (Evrysdi®), are another promising avenue. These oral medications modify the SMN2 gene's splicing to increase SMN protein production, leading to improved survival and motor milestones in infants. Some infants treated with these drugs have been able to stand and breathe without permanent support.

Support and Multidisciplinary Care

Ongoing care includes respiratory support, nutritional assistance, and supportive therapies tailored to individual needs. Families benefit from coordinated care plans involving various specialists knowledgeable about SMA.

A New Era for Infantile SMA Treatment

While no cure exists yet, early treatment with gene therapy or SMN2-targeting drugs can significantly improve long-term survival and motor function, changing the previously fatal prognosis of Type I SMA. Continued research and development of novel therapies aim to further enhance outcomes and quality of life for affected children.

Recognizing the symptoms of Infantile SMA is crucial for early diagnosis and treatment. Genetic counseling is a valuable resource for families concerned about the risk of infantile SMA, as it provides information about the condition, discusses testing options, and helps families understand their risks.

With the right interventions, many children with infantile SMA can lead fulfilling lives, achieving milestones such as improved mobility, enhanced communication skills, and increased independence through assistive devices and technology. Understanding the condition of Infantile SMA is crucial for families, allowing for early diagnosis and intervention, which can significantly impact the quality of life for affected infants.

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