Work

Ensuring continuity and development of spinal muscular atrophy treatment in Poland

Year: 2024

Type: article

Abstract: Spinal muscular atrophy is a neuromuscular disease genetically caused by damage to the SMN1 gene. The disease is characterised by a progressive loss of motor neurons leading to muscle weakness and consequent physical disability and respiratory failure. In Poland, we treat the widest possible population of SMA patients with all drugs registered for this indication, despite the very high unit costs. The development of the SMA treatment programme has become a model for diagnostic and therapeutic management, which can also be applied to the treatment of other rare diseases.

Source: Child Neurology

DOI: 10.5603/cn.101979

Authors: Katarzyna Kotulska-Jóźwiak, Monika Gos, Anna Kostera-Pruszczyk, Justyna Paprocka, Agnieszka Słowik, Marcin Czech, Jakub Gierczyński, Maria Mazurkiewicz-Bełdzińska

Institutions: Children's Memorial Health Institute, Instytut Matki i Dziecka, Medical University of Warsaw, Medical University of Silesia, Szpital Uniwersytecki w Krakowie, Warsaw University of Technology, Gdańsk Medical University

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4401526990

FWCI:

Cites: 18

Cited by:

Related to: 10