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 …
physical, psychological, emotional, social, and spiritual dimensions. Although genetics …
Quality of life and measures of quality of life in patients with neuromuscular disorders
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
chronic pain in persons with Charcot-Marie-Tooth (CMT) disease during a multidisciplinary …