Aspects Concerning Physical Therapy’s Role in Helping the Patient Suffering From Charcot-Marie-Tooth Disease Recover

Charcot-Marie-Tooth disease is a heterogenous group of genetic disorders, presenting the phenotype of a chronic progressive neuropathy affecting both the motor nerves, and thesensitive ones. The disease generally develops before the age of 20 years in the lower limbs. The evolution is chronic and progresses slowly. Charcot-Marie-Tooth disease is one of most commonly inherited neurological disorders, affecting about one in 2,500 people in the United States and 2,8 million people around the world. The present paper intends to be a contribution to improving kinetic treatment programme for Charcot-Marie-Tooth during adolescence. For the research purposes we have monitored an adolescent male patient who benefited from a customized kinetic treatment for six months. The analysis of our recorded data highlighted the progress made (increased joint mobility, improvement of dynamic balance, pain reduction, improvement of foot aesthetics, as well as increase of the quality of life).

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Report of a Patient with Multiple Mutations Leading to CharcotMarie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report

Iranian Journal of Public Health ◽

10.18502/ijph.v49i3.3157 ◽

2020 ◽

Author(s):

Atefeh MEHRABI ◽

Dariush D. FARHUD ◽

Karim NAYERNIA ◽

Hossein SADIGHI ◽

Marjan ZARIF-YEGANEH

Keyword(s):

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Lower Limbs ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Multiple Genes ◽

First Case ◽

Whole Exome ◽

Different Types ◽

Tooth Disease

The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs. There are several types of Charcot-Marie-Tooth and multiple genes are associated with this disease. Distal spinal muscular atrophy is an extremely rare disorder characterized by progressive pure lower motor neuron involvement. A 24 yr old woman using wheelchair referred to Farhud Genetic Clinic, Tehran, Iran in 2019, with progressive muscular atrophy, pain and Electromyography test suggesting Charcot-Marie-tooth. Both feet and hands were involved. Whole exome sequencing was performed on extracted DNA from her blood sample. We report the first case of a patient with different types of CharcotMarie-Tooth and distal spinal muscular atrophy simultaneously, which are as a result of mutations in multiple genes; this case is very uncommon.

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Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease

Case Reports in Cardiology ◽

10.1155/2015/646890 ◽

2015 ◽

Vol 2015 ◽

pp. 1-5 ◽

Cited By ~ 1

Author(s):

Sherif Ali Eltawansy ◽

Andrea Bakos ◽

John Checton

Keyword(s):

Heart Failure ◽

Heart Transplantation ◽

Genetic Disorders ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Noncompaction Cardiomyopathy ◽

High Incidence ◽

History Of ◽

Tooth Disease ◽

New Onset

We report a case of a 53-year-old female presenting with a new-onset heart failure that was contributed secondary to noncompaction cardiomyopathy. The diagnosis was made by echocardiogram and confirmed by cardiac MRI. Noncompaction cardiomyopathy (also known as ventricular hypertrabeculation) is a newly discovered disease. It is considered to be congenital (genetic) cardiomyopathy. It is usually associated with genetic disorders and that could explain the genetic pathogenesis of the non-compaction cardiomyopathy. Our case had a history of Charcot-Marie-Tooth disease. There is a high incidence of arrhythmia and embolic complications. The treatment usually consists of the medical management, defibrillator placement, and lifelong anticoagulation. Heart transplantation will be the last resort.

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Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2021-327186 ◽

2021 ◽

pp. jnnp-2021-327186

Author(s):

Menelaos Pipis ◽

Andrea Cortese ◽

James M Polke ◽

Roy Poh ◽

Jana Vandrovcova ◽

...

Keyword(s):

Age Of Onset ◽

Muscular Atrophy ◽

Disease Type ◽

Lower Limbs ◽

Reading Frame ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Neurophysiological Studies ◽

History Of ◽

Tooth Disease

ObjectiveNeurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC).MethodsIn this large observational study, we present phenotype–genotype correlations on 30 affected and 3 asymptomatic mutation carriers from eight families.ResultsThe majority of patients presented in adulthood with motor-predominant and lower limb-predominant symptoms and the average age of onset was 31.0±15.1 years. A prominent feature was the development of proximal weakness early in the course of the disease. The disease progressed rapidly, unlike other Charcot-Marie-Tooth disease (CMT) subtypes, and half of the patients (53%) needed to use a wheelchair on average 24.1 years after symptom onset. Furthermore, 40% of patients had evidence of early ankle plantarflexion weakness, a feature which is observed in only a handful of CMT subtypes. Neurophysiological studies and MRI of the lower limbs confirmed the presence of a non-length-dependent neuropathy in the majority of patients.All families harboured heterozygous frameshift variants in the last exon of NEFH, resulting in a reading frameshift to an alternate open reading frame and the translation of approximately 42 additional amino acids from the 3' untranslated region (3′-UTR).ConclusionsThis phenotype–genotype study highlights the unusual phenotype of CMT2CC, which is more akin to spinal muscular atrophy rather than classic CMT. Furthermore, the study will enable more informative discussions on the natural history of the disease and will aid in NEFH variant interpretation in the context of the disease’s unique molecular genetics.

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