Marking Charcot-Marie-Tooth awareness month (October), we were joined in our CMT seminar by Professor David Bennett and Professor Mary Reilly to talk about the latest CMT research. They talked about disease process in human tissue, induced pluripotent stem cells (iPSCs), gene-specific diagnosis and preparation for clinical trials.
We were joined by paediatric neurologist Dr Elizabeth Wraige, clinical nurse specialist, and physiotherapist Nick Emery to discuss potential treatments for CMT with our Director of Campaigns, Care and Support, Rob Burley. The panel also explored how people living with CMT can manage their condition more effectively, and talked about sensory loss and pain, the use of orthotics, and how taking a preventative approach can make patients more aware of their condition and progression of the diagnosis.
The headline sponsor for the MDUK Muscles Matter 2020 online seminar series is PTC Therapeutics [ Ссылка ], with additional sponsorship from Sarepta Therapeutics [ Ссылка ].
0:00 Introduction
6:40 What is CMT?
9:35 Genetics and trials in CMT
16:30 Models of CMT
19:00 Stem cells
19:21 Hereditary sensory neuropathy
26:20 Studying CMT
29:40 Research for CMT type 4
32:10 CMT without genetic diagnosis
33:20 Siblings with CMT
35:00 Volunteering for a trial
39:00 Generational progression
45:00 Living with CMT introduction
47:30 Children with CMT in clinic
53:20 Physiotherapy in CMT
1:04:20 Orthotics
1:06:42 Clinical nurse specialist role
1:17:20 Common effects of CMT
1:21:30 Tips for health care professionals
1:27:05 Lifestyle choices
