Tooth disease
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications
... CMT has been shown to increase the risk for complications during delivery, specifically abnormal birth presentation, post-partum bleed, and with higher rates of emergency interventions during delivery. 20 Many ...
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Original Article Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus
... Charcot-Marie-Tooth disease (CMT), first described by Charcot, Marie, and Tooth et ...a disease with a high degree of genetic heterogeneity [2] and its current molecular biological classifica- ...
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CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
... Charcot-Marie-Tooth disease type 2 (CMT2) is a genetically heterogeneous group of hereditary sensorimotor ...known disease genes for CMT2 take part in diverse processes of axon maintenance, including ...
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Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness
... Charcot-Marie-Tooth disease (CMTX1) is a clinically heteroge- neous hereditary motor and sensory neuropathy with X-linked trans- ...CMTX1 disease, as in other forms of Charcot-Marie-Tooth ...
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Cavovarus deformity in Charcot-Marie-Tooth disease: is there a hindfoot equinus deformity that needs treatment?
... Background: Charcot-Marie-Tooth disease (CMT), one of the most common hereditary neurologic disorders, often results in debilitating cavovarus foot deformities. The deformities are still not fully ...
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Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
... CMAP: compound muscle action potential; CMT: Charcot-Marie-Tooth disease; CMTNS: CMT neuropathy score; EMG: electromyography; dHMN: distal hereditary motor neuronopathy; HMSN: hereditary[r] ...
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Correlates of functional ankle instability in children and adolescents with Charcot-Marie-Tooth disease
... Marie-Tooth disease (CMT), describes a group of clinically and genetically heterogeneous neuropathies characterised by a common phenotype of abnormal neurophysiology, absent tendon reflexes, distal sensory ...
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Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic
... Charcot-Marie-Tooth disease type 1 (CMTX1) is the second most common hereditary motor sensory neuropathy (HMSN) representing an estimated 10% – 15% of ...
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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
... Mutations in MFN2, including one case with 2 recessive variants, a c.449G>T p.(Gly150Val) missense variant in compound heterozygous state with a deletion of exons 7–8, and one previously reported case 26 with 2 ...
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Validation of diagnostic codes for Charcot-Marie-Tooth disease in the Danish National Patient Registry
... Charcot–Marie–Tooth disease (CMT) is a clinically and genetically heterogeneous group of neuropathies, and is also known as hereditary motor and sensory neuropa- ...
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The Role of Orthotic Service in Modern Rehabilitation of Patients with Charcot Marie Tooth Disease
... [3]. Disease onset usually occurs during the first or second decade of life and can be described as slowly progressive, but the patient’s life span seems ...
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A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2
... (CMT) disease, also known as her- editary motor sensory neuropathy (HMSN),is one of the most common hereditary peripheral neuropathy with an estimated prevalence of 1 in 2500 [1, ...
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Clinical Reasoning: Pes cavus and neuropathyThink beyond Charcot-Marie-Tooth disease
... KD occurs in approximately 1 in 250,000 births in the United States. Clinically KD can be divided into 2 major phenotypes: infantile-onset (<12 months, 85%–90%) characterized by pro- gressive neurologic deterioration ...
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A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
... this strategy is far more efficient than are conventional sequencing panels or the successive sequencing of individ- ual candidate genes, especially when dealing with genet- ically diverse diseases such as CMT [1,3]. In ...
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Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease
... great phenotypic diversity associated with PNKP muta- tions. In this article, we further enlarge this variability by demonstrating that early-onset axonal sensory-motor neuropathy (or axonal Charcot-Marie-Tooth ...
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The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management
... Charcot–Marie–Tooth (CMT) disease is a genetically and phenotypically heterogeneous group of disorders. Classically, CMT includes hereditary disorders associated with sensory and motor deficits of the ...
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The molecular genetics of Charcot-Marie-Tooth disease
... For the m ajority of genetic diseases in m an, gross chromosomal rearrangem ents are not found as m arkers for the position of the disease gene. In these cases gene localization m ay be achieved through linkage ...
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Charcot-Marie-Tooth Disease: Lessons in Genetic Mechanisms
... The PMP22 gene encoding peripheral myelin protein 22, which is mutated in the mouse mod- els for human demyelinating neuropathies, Trembler and Trembler' (15,16), was shown to map within[r] ...
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The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review
... the disease etiology or the highly variable clinical course even amongst patients diagnosed with the same ...Charcot-Marie-Tooth disease (CMT) has become widely ...s disease (PD) and ...
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An avulsed tooth
... avulsed tooth should be replanted immediately or should be stored be stored in a physiological medium such as saline for only a short period before ...replanted tooth survives only a matter of years, during ...
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