Long-term reliability and stability of parameterized resting state EEG: evidence from a five-year follow-up.

Spinal Muscular Atrophy (SMA) is a genetic rare disease with autosomal recessive inheritance, characterised by progressive proximal muscle weakness and skeletal muscle atrophy (Nishio et al. ). It is caused by a genetic defect that reduces the production of the survival motor neuron (SMN) protein, which is essential for the neurons' maintenance and functionality. As a result, people with SMA experience progressive muscle degeneration, significantly impacting their ability to walk, speak, swallow, and breathe (Cleveland Clinic ). As the disease advances, the muscles responsible for these essential functions progressively weaken and atrophy, leading to severe disability or premature death (Cleveland Clinic ). Worldwide, SMA is recognised as the leading cause of hereditary infant mortality (Nishio et al. ). Thus, it has significant global relevance due to its impact on families, children, and the health systems (Chan et al. ). Its prognosis is closely connected to the type of SMA (Chung et al. ), being very poor for those affected by type I SMA (without treatment their life expectancy is less than six months) and relatively good for those affected by type IV (with a 100% survival rate at age 40). Since the first documented case of SMA in 1891, research and medical advancements have progressed through three major phases (Nishio et al. ). The first phase (1891–1994) focused on identifying and classifying the disease, ultimately leading to the recognition of five subtypes: Types 0–IV. The second phase (1995–2015) began with the cloning of the SMN genes and concentrated on the development of drug therapies. The third and current phase (2016–present) started with the introduction of FDA‐approved treatments (essential for the survival of children affected by type I SMA, the most severe and common type of SMA) and includes the implementation of newborn screening programs for early diagnosis. Rare diseases present significant challenges to health systems, including limited medical knowledge, high treatment costs, a lack of clinical expertise, and uncertainty about the cost‐effectiveness of available therapies (Valdez et al. ). In response, patient advocacy groups have played a pivotal role in positioning access to treatment as a fundamental health right and demanding state intervention to ensure equitable access to life‐saving therapies (Encina et al. ). This struggle reflects broader debates about the right to health and the responsibility of governments to guarantee universal access to medical care.