The increase has been attributed to mandatory reporting of rare diseases, advancements in diagnostic capabilities, and a growing clinical understanding of rare diseases.

In October last year, the science and technology news website Qubit filed a Freedom of Information request with the NNGYK to uncover the changes in the number of ALS-diagnosed patients over recent years. ALS, a condition currently challenging Hungarian constitutional lawyer Dániel Karsai, who is a prominent advocate for the legalization of euthanasia in Hungary.

According to data previously provided to Qubit by the center, the Department of Health Monitoring, which includes the National Registry of Congenital Abnormalities and the Center for Rare Diseases, has been legally obligated to register individuals diagnosed with rare diseases based on physicians' reports since January 1, 2020.

ALS cases are registered under the G12.2 code according to the International Classification of Diseases (ICD-10), which encompasses several motor neuron diseases in addition to ALS.

The registry data sent by the NNGYK in response to the data request indicated that prior to 2020, the number of recognized and registered cases of motor neuron diseases was 22. The figures then saw a significant rise to 3 cases in 2020, 2 in 2021, and a sharp increase to 57 cases in 2022. As of September 30, 2023, 16 new cases have been registered, totaling 78 reported cases between January 1, 2020, and September 30, 2023.

Qubit also inquired about the reasons behind the surge in case numbers. The NNGYK provided a detailed response, explaining that the G12.2 code covers several diseases similar to ALS, which include familial, lateral, and progressive subtypes and symptom complexes leading to spinal cord atrophy caused by motor neuron degeneration.

The NNGYK highlighted that diagnosing rare diseases can take months or even years, leading to delays in reporting. Therefore, the reported case numbers for a given year may reflect the timing of reports rather than the onset of the disease.

Factors significantly impacting case numbers include rapidly advancing diagnostic capabilities, greater clinical knowledge of rare diseases, increased focus from the EU and globally in recent years, changes in reporting discipline, and enforcement checks.

According to the agency, changes in medical education and the realization among physicians that reporting rare diseases is mandatory have played roles in the increased clinical knowledge. The National Registry of Congenital Abnormalities has mandated the reporting of rare diseases by diagnosing physicians since 2020, coinciding with the start of the COVID-19 pandemic.

"With this change, a broader range of reporters, including those working beyond the clinical departments for rare diseases, has begun to report cases they have identified and managed," the NNGYK reported. Following the COVID-19 pandemic, previous diagnoses and data are being progressively logged and refined in the registry. A quality assessment of the reports was first conducted in 2022, likely leading to more accurate reporting that year.

The NNGYK cautions that the data collected since the start of the rare diseases registry are not yet suitable for time series analysis. Consequently, the observed increase in case numbers cannot yet be considered definitive, and due to the complexity of the data, it must be analyzed with appropriate professional expertise.