scholarly journals Natural history of Charcot-Marie-Tooth disease during childhood

2017 ◽  
Vol 82 (3) ◽  
pp. 353-359 ◽  
Author(s):  
Kayla M.D. Cornett ◽  
Manoj P. Menezes ◽  
Rosemary R. Shy ◽  
Isabella Moroni ◽  
Emanuela Pagliano ◽  
...  
Keyword(s):  
Natural History ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
History Of ◽  
Tooth Disease

scholarly journals Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
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.

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

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.

scholarly journals Acute neurotoxicity following vincristine due to Charcot–Marie–Tooth disease in a young child with medulloblastoma

2019 ◽  
Vol 6 (3) ◽  
pp. 179-184
Author(s):  
Trisha Kissoon ◽  
Sridharan Gururangan ◽  
John Sladky
Keyword(s):  
Risk Factors ◽  
Young Child ◽  
Prior History ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Asymptomatic Patients ◽  
Increased Risk ◽  
History Of ◽  
Tooth Disease

Abstract Vincristine (VCR), a microtubule inhibitor that arrests the cell cycle by blocking metaphase of mitosis, is unique among the vinca alkaloids for causing polyneuropathy. Patients with increased risk of VCR neurotoxicity include the elderly and those with prior history of neuropathy-prone medical conditions. Identifying such risk factors prior to the development of neurotoxicity should be a goal prior to VCR administration. Clinicians should obtain a thorough medical and family history of neuropathies in any child scheduled to receive neurotoxic medications to avoid exacerbating an underlying disorder. We report a case of a young child with newly diagnosed medulloblastoma who started treatment on a VCR-containing chemotherapy regimen following surgery and craniospinal radiation. She subsequently developed severe peripheral polyneuropathy and new enhancement of the cranial and nerve roots following a relatively low cumulative dose of VCR and was diagnosed with previously unidentified Charcot–Marie–Tooth disease (CMTD) Type 1A. This case highlights that an evaluation of risk factors should be completed prior to initiation of neurotoxic chemotherapies and advocates for testing for inherited neuropathies such as CMTD even in asymptomatic patients when hereditary neuropathy is suspected.

Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report

2021 ◽  
pp. 1-5
Author(s):  
Ana Ortiz-Santiago ◽  
Edwardo Ramos
Keyword(s):  
Puerto Rican ◽  
Mitochondrial Protein ◽  
Motor Neuropathy ◽  
Childhood Onset ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Old Order ◽  
Sensory Motor ◽  
History Of ◽  
Tooth Disease

Charcot-Marie-Tooth disease (CMT) is a progressive hereditary neuromuscular neuropathy with pathology in the myelin sheath or the axon. CMT caused by mutations in the Ganglioside-induced differentiation associated protein 1 (GDAP1) gene has been described by a spectrum of phenotypic presentations. GDAP1 is a mitochondrial protein responsible for protecting neuronal bodies from oxidative stress. It is associated with axonal and demyelinating pathophysiology with recessive and dominant modes of inheritance.We describe a case of a 9-year-old Puerto Rican female with clinical and electrodiagnostic results compatible with an axonal sensory-motor neuropathy where a genetic test describes a homozygous GDAP1 missense mutation at the c.692C>T (p.Pro231Leu), previously undetected in a pediatric Latino patient. Mutations in GDAP1 have been previously described in Tunisian, Old Order Amish, European and Japanese families with varying modes of inheritance. To our knowledge, this homozygous variant presentation of the GDAP1 gene is the first to be described in a pediatric Puerto Rican patient without a family history of hereditary sensory motor neuropathy.

P38 Charcot-Marie-Tooth disease and related disorders: a natural history study

2011 ◽  
Vol 21 ◽  
pp. S17
Author(s):  
M. Laurá ◽  
S.M. Murphy ◽  
A. Rossor ◽  
A. Hiscock ◽  
M. Main ◽  
...  
Keyword(s):  
Natural History ◽  
Natural History Study ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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