Charcot-Marie-Tooth type 1A
Effectiveness of Real Time Quantitative PCR Compare to Repeat PCR for the Diagnosis of Charcot Marie Tooth Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies
... of Charcot-Marie-Tooth type 1A (CMT1A) and of hereditary neuropathy with a liability to pressure palsies (HNPP) are the result of heterozygosity for the duplication or deletion of ...
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REVIEW ARTICLE Charcot-Marie-Tooth type 1A disease from patient to laboratory
... Charcot-Marie-Tooth (CMT) disease is a well-known neural or spinal type of muscular atrophy. It is the most familiar disease within a group of conditions called Hereditary Motor and Sensory ...
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An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A
... Background: Charcot-Marie-Tooth type 1A disease (CMT1A) is a rare orphan inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for the structural myelin ...
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Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic
... Fig. 1 Representative ultrasound images of the median nerve (MN) in different diseases / disease states are shown per row. The left column (pictures labeled with an (a)) depicts cross sections of the upper arm (UA) and ...
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PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
... to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing ...
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The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C
... reported slurred speech and mild dysphagia. On exam, she exhibited leg amyotrophy, foot drop, upper limb and fa- cial myokymia, gaze-evoked and hypermetric saccades mild appendicular dysmetria and dysarthria (Additional ...
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Correlates of functional ankle instability in children and adolescents with Charcot-Marie-Tooth disease
... The physical characteristics of the 30 study participants with CMT aged 7–18 years are presented in Table 1. There were 14 male and 16 female participants. The ma- jority of study participants had CMT Type ...
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Allele specific RNA interference prevents neuropathy in Charcot Marie Tooth disease type 2D mouse models
... A recessive or dominant de novo inheritance pattern was pre- dicted. Patient DNA was extracted and subjected to both targeted and unbiased screening strategies. This revealed 2 full-length, WT copies of the SMN1 gene and ...
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Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study
... Finally, it is to be underlined that some of the changes in gait patterns observed in young CMT patients in 18 months, might not be considered only as a direct conse- quence of disease p[r] ...
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PMP22 antisense oligonucleotides reverse Charcot Marie Tooth disease type 1A features in rodent models
... as Charcot-Marie- Tooth disease (CMT), are one of the most common heritable dis- eases of the nervous system, affecting approximately 1 in 2,500 individuals ...
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Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness
... X-linked Charcot-Marie-Tooth disease (CMTX1) is a clinically heteroge- neous hereditary motor and sensory neuropathy with X-linked trans- ...of Charcot-Marie-Tooth (CMT) disease, ...
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The Role of Orthotic Service in Modern Rehabilitation of Patients with Charcot Marie Tooth Disease
... Charcot-Marie-Tooth (CMT) disease, which encompasses several hereditary motor and sensory neuropathies, is one of the most common neuromuscular disorders. 80% of patients having CMT disease are ...
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A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2
... Charcot-Marie-Tooth (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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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
... dated Charcot-Marie-Tooth neuropathy score (CMTNS, v2) or CMT examination score (CMTES, v2) 22 and cases were divided into mild (CMTNS 0 to 10 or CMTES 0 to 7), moderate (CMTNS 11 to 20 or CMTES 8 to ...
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Clinical Reasoning: Pes cavus and neuropathyThink beyond Charcot-Marie-Tooth disease
... An 18-year-old woman was referred to a neuromuscular clinic for neuropathy and tremors. She had been born full-term and had mildly delayed walking at 14 months. She was a toe-walker, clumsy, and when running, had ...
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CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
... Results: The c.197G.T variant in CHCHD10 was found in 6 families, 4 of which included multiple individuals available for detailed clinical study. Variants in this gene have recently been associ- ated with amyotrophic ...
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Genetic analysis of hereditary sensory, motor and autonomic neuropathies, including a rat model
... GJBl mutations in patients with Charcot-Marie-Tooth disease 169 Clinical features of the index patients with GJBl mutations 175 Electrophysiological findings in CMT patients with [r] ...
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Early-onset CMT1B due to the MPZ mutation
... demyelinating type and since the transmission followed an autosomal dominant trait-of-inheritance, the presented case was diagnosed as CMT1B, which has been repeatedly reported in the literature ...
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The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C
... wild type construct whilst utilising the same specific residues (Additional file 13: Figure ...wild type LITAF Δ114–139 remained consist- ently soluble and folded at these concentrations of ...wild ...
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Clinical and genetic study of a large Charcot–Marie–Tooth type 2A family from southern Italy
... Article abstract—The authors report a large pedigree from southern Italy with Charcot–Marie–Tooth disease type 2A (CMT2A). The clinical picture was uniform and characterized by distal muscular ...
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