To gain a better understanding of the needs in terms of diagnosis, management and training in primary mitochondrial myopathies in Europe, a survey was carried out among 220 healthcare professionals in 31 European countries. Its findings highlight persistent difficulties:
- the diagnosis and management of these diseases remain complex and vary from country to country.
- Comprehensive genetic tests (genome/exome sequencing) are still difficult to carry out. Waiting times for results often exceed 6 months, and there is considerable variation between countries.
- the current ICD-10 diagnostic codes are unsuitable for accurately classifying these diseases. Over 70% of respondents want specific codes to improve clinical management and patient reimbursement.
- 90% of professionals feel they need more training on these diseases.
