نتایج جستجو برای: charcot marie tooth
تعداد نتایج: 97261 فیلتر نتایج به سال:
Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are kn...
Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) Joshua Burns, Richard Finkel, Tim Estilow, Andy Hiscock, Matilde Laura, Polly Swingle, Agnes Patzko, Allan Glanzman, Gyula Acsadi, Francesco Muntoni, Mary Reilly, Davide Pareyson, Isabella Moroni, Emanuela Pagliano, Sindhu Ramchandren, Kate Eichinger, Monique Ryan, Robert Ouvrier, Michael Shy, Ros...
Background Leg muscle cramps have been identified as the strongest independent predictor of worse quality of life in Australian children with Charcot-Marie-Tooth disease Type 1A (CMT1A). There is no accepted treatment for cramp in children with CMT and the cause of cramp is not well understood. Potential therapeutic targets should be carefully identified to direct clinical trials of interventions.
Tooth sensitivity is a very common clinical presentation which can cause considerable concern for patients. This condition is frequently encountered by periodontists, dentists, hygienists and dental therapists. The management of this condition requires a good understanding of the complexity of the problem, as well as the variety of treatments available. This review considers the aetiology, inci...
Background: A cracked tooth may be challenging for dentists because it may present with varied intensities, may be asymptomatic, and may still not be clinically visible. The transilumination method can facilitate diagnosis and ensure appropriate treatment in such cases. The aim of the present article was to report a clinical case of an anterior cracked tooth with a nonesthetic class IV restorat...
1 Master’s degree in medicine, FCMSCSP. Assisting physician at the Otorhinolaryngology Unit of the Municipal Public Servant’s Hospital (Hospital do Servidor Público Municipal). 2 Doctoral student, physician. 3 Otorhinolaryngologist, physician private office. Municipal Public Servant’s Hospital (Hospital do Servidor Público Municipal). Send correspondence to: Av. Paes de Barros 828 apto. 9 Mooca...
The ganglioside-induced differentiation-associated protein 1 (GDAP1) is a mitochondrial fission factor and mutations in GDAP1 cause Charcot-Marie-Tooth disease. We found that Gdap1 knockout mice (Gdap1(-/-)), mimicking genetic alterations of patients suffering from severe forms of Charcot-Marie-Tooth disease, develop an age-related, hypomyelinating peripheral neuropathy. Ablation of Gdap1 expre...
OBJECTIVE The objective of this paper was to present a report in which the Bournemouth Questionnaire was used as an outcome measure in the treatment and rehabilitation of an individual previously diagnosed with Charcot-Marie-Tooth disease and concurrently suffering with mechanical neck and arm pain. DESIGN ARCHITECTURE: This was a retrospective case report. SAMPLE PROFILE: An individual over 18...
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