If we are to learn more about CMT and the effectiveness of rehabilitation it is worth asking the patient and their caregiver. A recent Italian study by Padua et al recently described a survey of CMT patients and caregivers and their perspectives and perceptions of rehabilitation efficacy and needs. This cross sectional study used several standard questionnaires to survey 123 patients enrolled through clinical and genetic testing. It suggested not surprisingly that patients believe it is important to feel better after physical therapy. There was also a discrepancy between the perception of benefit from rehabilitation for the patient, versus the caregiver’s perception of benefit.
When we think of animal models for diseases like CMT, probably the fly is the furthest from our mind. Yet the humble fly may have overturned our basic understanding of the disease mechanism behind CMT2B becoming the first animal model for this disease. For CMT2B it was long thought to be a gain of function disease. A recent study by Cherry and co-workers at the University of Texas Southwestern Medical Center, show that neurons lacking a gene for rab7 result in neuropathy, while addition of Rab7 proteins could return function. Such insights can affect how we approach trying to find a cure for the disease, perhaps methods to increase Rab7 proteins while opposite to the previous dogma, may actually be right. There are still hurdles to overcome because the fly may not be a perfect model for human CMT2B.