Quality of life in rare genetic conditions: a systematic review of the literature

JS Cohen, BB Biesecker - … Journal of Medical Genetics Part A, 2010 - Wiley Online Library
Quality of life (QoL) refers to an individual's sense of overall well‐being encompassing
physical, psychological, emotional, social, and spiritual dimensions. Although genetics …

Quality of life and measures of quality of life in patients with neuromuscular disorders

TM Burns, CD Graham, MR Rose, Z Simmons - Muscle & nerve, 2012 - Wiley Online Library
In this review we present an overview of quality of life (QOL) and QOL measures in
neuromuscular disorders. We discuss the characteristics of QOL measures used in …

Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease

CM Ward, LA Dolan, DL Bennett, JA Morcuende… - JBJS, 2008 - journals.lww.com
Background: Cavovarus foot deformity is common in patients with Charcot-Marie-Tooth
disease. Multiple surgical reconstructive procedures have been described, but few authors …

Foot drop and plantar flexion failure determine different gait strategies in Charcot-Marie-Tooth patients

R Don, M Serrao, P Vinci, A Ranavolo, A Cacchio… - Clinical …, 2007 - Elsevier
OBJECTIVE: To describe the temporal, kinetic, kinematic, electromyographic and energetic
aspects of gait in Charcot-Marie-Tooth patients with foot drop and plantar flexion failure …

Management of Charcot–Marie–Tooth disease: improving long-term care with a multidisciplinary approach

D McCorquodale, EM Pucillo… - Journal of …, 2016 - Taylor & Francis
Charcot–Marie–Tooth (CMT) disease is the most common inherited neuropathy and one of
the most common inherited diseases in humans. The diagnosis of CMT is traditionally made …

Charcot-Marie-Tooth disease and other genetic polyneuropathies

S Ramchandren - CONTINUUM: Lifelong Learning in Neurology, 2017 - journals.lww.com
Abstract Purpose of Review: Genetic polyneuropathies are rare and clinically
heterogeneous. This article provides an overview of the clinical features, neurologic and …

Tibialis posterior tendon transfer corrects the foot drop component of cavovarus foot deformity in Charcot-Marie-Tooth disease

T Dreher, SI Wolf, D Heitzmann, C Fremd, MC Klotz… - JBJS, 2014 - journals.lww.com
Background: The foot drop component of cavovarus foot deformity in patients with Charcot-
Marie-Tooth disease is commonly treated by tendon transfer to provide substitute foot …

Charcot-Marie-Tooth neuropathies: diagnosis and management

A Jani-Acsadi, K Krajewski, ME Shy - Seminars in neurology, 2008 - thieme-connect.com
ABSTRACT Charcot-Marie-Tooth (CMT) disease is caused by mutations in several genes
expressed in myelinating Schwann cells and the axons they ensheathe. Typical patients …

Gender differences in non-sex linked disorders: insights from Huntington's disease

D Zielonka, B Stawinska-Witoszynska - Frontiers in Neurology, 2020 - frontiersin.org
Gender plays a role in the prevalence and natural course of several disorders. It is apparent
in neurodegenerative diseases like Parkinson's disease more prevalent in men, Alzheimer's …

[HTML][HTML] Pain assessment in Charcot-Marie-Tooth (CMT) disease

C Ribiere, M Bernardin, S Sacconi, E Delmont… - Annals of physical and …, 2012 - Elsevier
OBJECTIVE: The objective of our study was to describe and evaluate the prevalence of
chronic pain in persons with Charcot-Marie-Tooth (CMT) disease during a multidisciplinary …