Pediatric Charcot-Marie-Tooth Disease

Jani‐Acsadi, Agnes; Õunpuu, Sylvia; Pierz, Kristan; Acsádi, Gyula

doi:10.1016/j.pcl.2015.03.012

Cited by 48 publications

(50 citation statements)

References 94 publications

(104 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There is marked clinical and genetic heterogeneity with CMT (Gutmann & Shy, ). From a clinical prospective, while the majority of affected individuals have the classical presentation described above, there is a broad range in age of presentation and severity, and there are instances of very severe neuropathy presenting in infancy with profound weakness, as well as cases where symptoms do not occur until adulthood (Jani‐Acsadi et al, ). Mutations in more than 80 genes have been associated with CMT (Gutmann & Shy, ), though mutations in four genes ( PMP22 duplication, which is by far the most common mutation, and variants in MPZ , GJB32 , and MFN2 ) account for the majority of cases (Saporta et al, ).…”

Section: Charcot–marie–tooth Diseasementioning

confidence: 99%

Treating pediatric neuromuscular disorders: The future is now

Dowling

Gonorazky

Cohn

et al. 2017

American J of Med Genetics Pt A

100

View full text Add to dashboard Cite

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot–Marie–Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies). Historically, pediatric neuromuscular disorders have uniformly been considered to be without treatment possibilities and to have dire prognoses. This perception has gradually changed, starting in part with the discovery and widespread application of corticosteroids for Duchenne muscular dystrophy. At present, several exciting therapeutic avenues are under investigation for a range of conditions, offering the potential for significant improvements in patient morbidities and mortality and, in some cases, curative intervention. In this review, we will present the current state of treatment for the most common pediatric neuromuscular conditions, and detail the treatment strategies with the greatest potential for helping with these devastating diseases.

show abstract

Section: Charcot–marie–tooth Diseasementioning

confidence: 99%

Treating pediatric neuromuscular disorders: The future is now

Dowling

Gonorazky

Cohn

et al. 2017

American J of Med Genetics Pt A

100

View full text Add to dashboard Cite

show abstract

“…Charcot‐Marie‐Tooth (CMT) disease is one of the most common neuromuscular diseases with an incidence of 1 in 2,500, typically diagnosed in childhood or adolescence and associated with life‐long disability (Pareyson and Marchesi, ; Jani‐Acsadi et al, ) . CMT disease results from mutations in multiple causative genes giving rise to a wide spectrum of clinical phenotypes (Rossor et al, ) .…”

Section: Introductionmentioning

confidence: 99%

Gait in children and adolescents with Charcot‐Marie‐Tooth disease: a systematic review

Kennedy

Carroll

McGinley

2016

J Peripheral Nervous Sys

View full text Add to dashboard Cite

Symptoms of Charcot-Marie-Tooth (CMT) disease typically arise in childhood or adolescence with gait difficulty most common. A systematic review was conducted to synthesise, review, and characterise gait in paediatric CMT. Health-related electronic databases were reviewed with search terms related to CMT and gait. Of 454 articles, 10 articles describing seven studies met eligibility criteria; samples ranged from 1 to 81, included mixed CMT sub-types and had a participant mean age of 13 years. Assessments included a variety of methods to examine only barefoot gait. Heterogeneity of gait patterns was noted. Children and adolescents with CMT walked slower, most likely due to shorter stride length. Common kinematic and kinetic abnormalities included significant foot drop during swing, reduced calf muscle power, and proximal compensatory mechanisms in the lower limb. Little data were found to inform typical functional gait characteristics or change over time. Of note, barefoot assessment does not reflect function in everyday life where footwear is commonly worn. With limited existing literature, future studies of gait in paediatric CMT need to evaluate the influence of diagnostic sub-types and disease progression; the effect of factors such as footwear and the environment; and to explore changes in gait and function throughout childhood and adolescence.

show abstract

“…CMT is a genetically heterogeneous group of hereditary motor and sensory neuropathies with a common clinical phenotype . Whatever the gene defect (more than 80 CMT causing genes have been identified), the final common end result is axonal degeneration presenting as the typical CMT phenotype . The disease usually presents in the first two decades of life and then slowly progresses .…”

Section: Charcot‐marie‐tooth Diseasementioning

confidence: 99%

“…The disease usually presents in the first two decades of life and then slowly progresses . CMT is divided into two major groups: the more common demyelinating type, and secondly the axonal variant . Two thirds of cases are CMT type 1A (demyelinating type) .…”

Section: Charcot‐marie‐tooth Diseasementioning

confidence: 99%

Spinal Nerve Root Enhancement on MRI Scans in Children: A Review

Kontzialis

Poretti

Michell

et al. 2015

Journal of Neuroimaging

View full text Add to dashboard Cite

Spinal nerve root enhancement in pediatric patients is generally nonspecific, and clinical and laboratory correlation is essential. Nerve root enhancement indicates lack of integrity of the blood-nerve barrier. In this review, we will present a range of pediatric conditions that can present with spinal nerve root enhancement including inflammatory, infectious, hereditary, and neoplastic causes. Familiarity with the various pathologic entities associated with spinal nerve root enhancement is important for a concise differential diagnosis in the appropriate clinical setting. This will avoid unnecessary additional investigations.

show abstract

Pediatric Charcot-Marie-Tooth Disease

Cited by 48 publications

References 94 publications

Treating pediatric neuromuscular disorders: The future is now

Treating pediatric neuromuscular disorders: The future is now

Gait in children and adolescents with Charcot‐Marie‐Tooth disease: a systematic review

Spinal Nerve Root Enhancement on MRI Scans in Children: A Review

Contact Info

Product

Resources

About