TürkiyeDiagnosis and screening
Broad genetic testing in inherited nerve disease: cause found in three quarters of 63 families in Istanbul
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Koç University studied 67 people with suspected CMT. A step-by-step genetic testing pathway was used. A cause was found in 73% of the 63 families. Nine new gene changes were identified. In six people, the disease was actually not CMT. Some of these were treatable diseases.
What does it mean for patients and families?
Narrow gene panels can miss some diagnoses. In families where marriage between relatives is common, broad genetic testing may be useful. The doctor decides which test is appropriate.
Source
Scientific paper: Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg. Clinical Genetics, 2026. DOI: 10.1111/cge.70226 · PubMed 42552261
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Charcot-Marie-Tooth disease (CMT)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.