Certification of a Pilot with Charcot-Marie-Tooth Disease

2021 ◽  
Vol 92 (2) ◽  
pp. 124-126
Author(s):  
Tania Jagathesan ◽  
Michael OBrien ◽  
Alexander Rattray

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a rare hereditary motor and sensory neuropathy. This is a report of a pilot with this condition with a discussion of the challenges for the regulator in the assessment for medical certification of pilots with a neurological disability.CASE REPORT: A pilot with CMTX1 declared his condition to the United Kingdom Civil Aviation Authority when his brother was diagnosed with the same condition. Apart from high arched feet and some difficulty playing sports, he had no problems until his mid-forties, when he very slowly developed increasing weakness with foot dorsiflexion and later wasting and weakness of the small hand muscles. He reported no problems with any flying activity. On clinical examination, it seemed likely that the disability would have an impact on his ability to undertake all the flying tasks of a commercial pilot, including those required in emergencies.DISCUSSION: A modified Medical Flight Test (MFT) specifically tailored by the regulator to test areas of functional impairment allowed the successful certificatory assessment of a pilot with this condition; an approach which could apply to any pilot with a rare neurological disability.Jagathesan T, OBrien M, Rattray A. Certification of a pilot with Charcot-Marie-Tooth disease. Aerosp Med Hum Perform. 2021; 92(2):124126.

2020 ◽  
Vol 41 (7) ◽  
pp. 870-880 ◽  
Author(s):  
Glenn B. Pfeffer ◽  
Tyler Gonzalez ◽  
James Brodsky ◽  
John Campbell ◽  
Chris Coetzee ◽  
...  

Background: Charcot-Marie-Tooth (CMT) disease is a hereditary motor-sensory neuropathy that is often associated with a cavovarus foot deformity. Limited evidence exists for the orthopedic management of these patients. Our goal was to develop consensus guidelines based upon the clinical experiences and practices of an expert group of foot and ankle surgeons. Methods: Thirteen experienced, board-certified orthopedic foot and ankle surgeons and a neurologist specializing in CMT disease convened at a 1-day meeting. The group discussed clinical and surgical considerations based upon existing literature and individual experience. After extensive debate, conclusion statements were deemed “consensus” if 85% of the group were in agreement and “unanimous” if 100% were in support. Conclusions: The group defined consensus terminology, agreed upon standardized templates for history and physical examination, and recommended a comprehensive approach to surgery. Early in the course of the disease, an orthopedic foot and ankle surgeon should be part of the care team. This consensus statement by a team of experienced orthopedic foot and ankle surgeons provides a comprehensive approach to the management of CMT cavovarus deformity. Level of Evidence: Level V, expert opinion.


1993 ◽  
Vol 39 (9) ◽  
pp. 1845-1849 ◽  
Author(s):  
G W Hensels ◽  
E A Janssen ◽  
J E Hoogendijk ◽  
L J Valentijn ◽  
F Baas ◽  
...  

Abstract Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication on chromosome 17p11.2. The gene encoding the peripheral myelin protein PMP 22 (the critical gene in this subtype of CMT1) is located within this duplication. To detect this duplication in chromosomal DNA from individuals thought to have CMT1, we compared the hybridization signals of two DNA probes within this duplication (VAW412R3a and VAW409R3a) with the signal of a reference probe (E3.9). When duplication was present, the signals from the first two probes increased from 100% (for nonduplicated samples) to 145% and 142%, respectively. The day-to-day variance was 3.7% and 5.1%, respectively. We demonstrated this DNA duplication in 49 of 95 DNA samples from unrelated individuals thought to have CMT1. Moreover, because hereditary neuropathy with liability to pressure palsies (HNPP) is based on a DNA deletion in the same area of chromosome 17, this quantitative test may be useful in establishing the presence of HNPP. In a preliminary investigation, four unrelated patients with HNPP yielded test values of 63% and 54%, respectively, of those for nonduplicated samples (CV 19% and 18%, respectively; n = 4), suggesting a deletion in 17p11.2.


CHEST Journal ◽  
1987 ◽  
Vol 91 (4) ◽  
pp. 567-570 ◽  
Author(s):  
Charles K. Chan ◽  
Vahid Mohsenin ◽  
Jacob Loke ◽  
Jim Virgulto ◽  
M. Leonide Sipski ◽  
...  

Neurology ◽  
1993 ◽  
Vol 43 (5) ◽  
pp. 1010-1010 ◽  
Author(s):  
J. E. Hoogendijk ◽  
E.A.M. Janssen ◽  
A. A.W.M. Gabreels-Festen ◽  
G. W. Hensels ◽  
E. M.G. Joosten ◽  
...  

2016 ◽  
Vol 46 (3) ◽  
pp. 157-165 ◽  
Author(s):  
Lidiane Carine Lima Santos Barreto ◽  
Fernanda Santos Oliveira ◽  
Paula Santos Nunes ◽  
Iandra Maria Pinheiro de França Costa ◽  
Catarina Andrade Garcez ◽  
...  

Background: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: CMT type 1 (CMT1; demyelinating form) and CMT type 2 (CMT2; axonal form). The objectives of this study were to systematically review and assess the quality of studies reporting the incidence and/or prevalence of CMT worldwide. Summary: A total of 802 studies were initially identified, with only 12 meeting the inclusion criteria. CMT prevalence was reported in 10 studies and ranged from 9.7/100,000 in Serbia to 82.3/100,000 in Norway. The frequency of the main subtypes varied from 37.6 to 84% for CMT1 and from 12 to 35.9% for CMT2; the country with the lowest prevalence of CMT1 was Norway, and the country with the highest prevalence of CMT1 was Iceland; on the other hand, CMT2 was least prevalent in the United Kingdom and most prevalent in Norway. Key Messages: This review reveals the gaps that still exist in the epidemiological knowledge of CMT around the world. Published studies are of varying quality and utilise different methodologies, thus precluding a robust conclusion. Additional research focusing on epidemiological features of CMT in different nations and different ethnic groups is needed.


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