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Prof. Anna Potulska-Chromik on treatment and hopes for patients with Friedreich's ataxia

MedExpress Team

Piotr Wójcik

Published Sept. 17, 2024 07:58

- A patient with Friedriech's ataxia develops the so-called ataxia symptom. (...) This disease unfortunately progresses and ends in premature death. Patients generally pass away in the fourth or fifth decade of life," Prof. Anna Potulska-Chromik of the Department of Neurology at the Medical University of Warsaw told Medexpress in an interview during the Children and Adolescent Health Congress. A new molecule has emerged for the treatment of the disease, which definitely slows and can even stop the progression of Friedreich's ataxia. - The molecule was registered in the United States in 2023, and also by the EMA in February this year. We expect that in accordance with the reimbursement law, the drug will also be available in Poland within the next year," added Prof. Anna Potulska-Chromik.

What is Friedreich's ataxia? Are we able to determine which group of patients it affects, in terms of numbers but also in terms of structure?

Friedreich's Ataxia is a genetically determined, neurodegenerative, progressive disease. It primarily affects the musculoskeletal system. A patient with Friedreich's ataxia develops the so-called ataxia symptom, which we can translate as motor awkwardness. As a result, the patient has difficulty walking, exercising or participating in physical education classes. These symptoms unfortunately progress. There is trembling in the upper extremities, a high amplitude of movement, making it a problem even for the patient to make himself a sandwich, prepare any food or pour water into a glass. As in most genetic diseases, we also have other systems involved and somewhat less typical symptoms with which the disease can ...

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