Recent Advances in Charcot-Marie-Tooth Disease
Recent Advances in Charcot-Marie-Tooth Disease
In rare subtypes of CMT, there is the question of whether it makes much difference to test for genes that occur in 1% or less of patients. Before the advent of high-throughput techniques, geneticists could only consult a handful of research laboratories worldwide to test for a particular gene; knowing beforehand that the chances of success were small, turnaround times long and sequencing costs high. This problem has been tackled to some extent with novel techniques but is in part already replaced by the problem of data analysis.
Still, clinicians following patients with rare neuromuscular diseases will agree that a tremendous value lies in establishing an exact genetic diagnosis. Providing an accurate diagnosis is very important for patients and also uncovers the natural history and prognosis. Specific genetic counseling and especially preimplantation genetic diagnosis is critically dependent on a precise molecular diagnosis. Finally, establishing accurate genetic diagnosis will further enlarge our understanding of the key mechanisms that drive neurodegeneration of the PNS, which is the best way to design more rational treatment strategies. At the time of writing there are no effective therapies for IPN.
Is Genetic Testing Always Justified?
In rare subtypes of CMT, there is the question of whether it makes much difference to test for genes that occur in 1% or less of patients. Before the advent of high-throughput techniques, geneticists could only consult a handful of research laboratories worldwide to test for a particular gene; knowing beforehand that the chances of success were small, turnaround times long and sequencing costs high. This problem has been tackled to some extent with novel techniques but is in part already replaced by the problem of data analysis.
Still, clinicians following patients with rare neuromuscular diseases will agree that a tremendous value lies in establishing an exact genetic diagnosis. Providing an accurate diagnosis is very important for patients and also uncovers the natural history and prognosis. Specific genetic counseling and especially preimplantation genetic diagnosis is critically dependent on a precise molecular diagnosis. Finally, establishing accurate genetic diagnosis will further enlarge our understanding of the key mechanisms that drive neurodegeneration of the PNS, which is the best way to design more rational treatment strategies. At the time of writing there are no effective therapies for IPN.
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