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Abstract

Spinal muscular atrophy (SMA) is a rare, inherited neuromuscular disorder characterized by progressive degeneration of alpha motor neurons, resulting in muscle weakness, loss of motor function, and reduced survival. Over the past decade, the introduction of disease-modifying therapies has significantly altered the natural history of SMA, particularly when treatment is initiated early in the disease course. Nevertheless, in many countries, including Kosovo, newborn screening programs for SMA have not yet been implemented, leading to delayed diagnosis after the onset of clinical symptoms. This study presents the first national clinical overview of genetically confirmed SMA patients from Kosovo, comprising 18 individuals (13 pediatric and 5 adult patients). We analyzed key clinical parameters, including age at symptom onset, age at diagnosis, current age, distribution of SMA types, and the highest motor milestone achieved. Our findings demonstrate substantial diagnostic delays, particularly among pediatric patients with early-onset forms of the disease, which may limit the effectiveness of available therapies. These results highlight the urgent need to implement newborn screening and to improve timely access to treatment in low- and middle-resource settings, in order to optimize clinical outcomes and quality of life for individuals with SMA‎.

Keywords: Spinal muscular atrophy, Kosovo, Age at diagnosis, Motor milestones, Newborn screening

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