Family doctor and paediatrician care for a patient with spinal muscular atrophy

Spinal muscular atrophy (SMA) is a neurodegenerative disease leading to motor disability, progressive respiratory failure and ultimately death. Its incidence is estimated at approximately 1/7,600 births in the Polish population. Owing to effective, modern treatment methods, SMA may be nowadays considered a chronic disease. Early and effective diagnosis based on newborn screening, followed by the implementation of one of the three available therapies, makes it possible to slow down the disease progress and to acquire further motor development skills by patients. Comprehensive care including nutrition, diagnosis of respiratory, gastrointestinal, and musculoskeletal disorders, and rehabilitation remain a challenge for the health care system. In the paper we discuss basic issues on the aetiology, inheritance patterns and typical clinical picture of SMA, the principles of neonatal screening in Poland, the treatments available as part of the drug therapy program (nusinersen, risdiplam, onasemnogene abeparvovec), as well as everyday care and health prevention in patients diagnosed with SMA. Special attention was paid to physiotherapy and motor improvement. An important task of primary care physicians is to actively search for possible complications of the disease and adverse effects of treatment methods, and to implement the vaccination programme. Individuals with SMA will constitute an increasing percentage of patients in general practice offices, which is why close cooperation between general practitioners, paediatricians and neurologists is extremely important to ensure comprehensive and coordinated care.