Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy
| Autor: | Maria Jędrzejowska, Katarzyna Janiszewska, Janusz Zimowski, Janusz Sierdziński, Anna Kostera-Pruszczyk, Anna Lusakowska, Przemysław Grochowski, Anna Kamińska |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Registry Neuromuscular disease Type 3 SMA Adolescent Motor Disorders lcsh:Medicine Disease Muscular Atrophy Spinal Medicine Humans Pharmacology (medical) Disabled Persons Copy-number variation Registries Genetics (clinical) TREAT-NMD Natural course business.industry Research lcsh:R Infant General Medicine Spinal muscular atrophy medicine.disease SMA Spinal muscular atrophy (SMA) Survival of Motor Neuron 1 Protein Natural history Child Preschool Female Poland Age of onset business SMN2 copy number |
| Zdroj: | Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021) |
| ISSN: | 1750-1172 |
| Popis: | Background Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic diseases leading to premature death or severe motor disability. New therapies have been developed in recent years that change the natural history of the disease. The aim of this study is to describe patients included in the Polish Registry of SMA, with a focus on the course of type 3 SMA (SMA3) before the availability of disease-modifying treatments. Results 790 patients with SMA were included in the registry (173 with type 1 [SMA1], 218 with type 2 [SMA2], 393 with SMA3, and six with type 4 SMA [SMA4]), most (52%) of whom were adults. Data on SMN2 gene copy number were available for 672 (85%) patients. The mean age of onset was 5 months for SMA1, 11.5 months for SMA2, and 4.5 years for SMA3. In patients with SMA3, the first symptoms occurred earlier in those with three copies of SMN2 than in those with four copies of SMN2 (3.2 years vs. 6.7 years). The age of onset of SMA3 was younger in girls than in boys (3.1 years vs. 5.7 years), with no new cases observed in women older than 16 years. Male patients outnumbered female patients, especially among patients with SMA3b (49 female vs. 85 male patients) and among patients with SMA3 with four copies of SMN2 (30 female vs. 69 male patients). 44% of patients with SMA3 were still able to walk; in those who were not still able to walk, the mean age of immobilization was 14.0 years. Patients with SMA3a (age of onset SMN2 had significantly worse prognosis for remaining ambulant than patients with SMA3b (age of onset ≥ 3 years) and four copies of SMN2. Conclusions The Registry of SMA is an effective tool for assessing the disease course in the real world setting. SMN2 copy number is an important prognostic factor for the age of onset and ambulation in SMA3. Sex and age of disease onset also strongly affect the course of SMA. Data supplied by this study can aid treatment decisions. |
| Databáze: | OpenAIRE |
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