scholarly journals Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT

2021 ◽  
Author(s):  
Valeria Prada ◽  
Riccardo Zuccarino ◽  
Cristina Schenone ◽  
Giulia Mennella ◽  
Marina Grandis ◽  
...  
Keyword(s):  
Medical Records ◽  
Progressive Disease ◽  
Correct Choice ◽  
Sensory Loss ◽  
Hereditary Neuropathy ◽  
Pes Cavus ◽  
Charcot Marie Tooth ◽  
Risk Of Falls ◽  
Hammer Toes ◽  
Ankle Foot Orthotics

Abstract Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy with an estimated prevalence of 1 person affected on 2500. Frequent symptoms include distal weakness and muscle wasting, sensory loss, reduced deep tendon reflexes, and skeletal deformities, such as hammer toes and pes cavus. CMT is a progressive disease and patients’ needs change over their lifetime. In particular, ambulation aids are increasingly needed to maintain ambulation and reduce the risk of falls. We performed a retrospective analysis of medical records from 149 patients with confirmed CMT to evaluate patients ambulation needs related to the severity of their CMT as measured by the CMT Neuropathy Score (CMTNS) and Ambulation Index (AI). Most patients required some form of orthotics (86.6%). The CMTNS and AI scores both differed significantly between patients with no orthotics compared to those who wore insoles/inserts. The CMTNS and AI also differed significantly between patients wearing insoles and those with ankle foot orthotics (AFOs). CMTNS and the AI were valid predictors of the type and choice of the orthotics. Both the CMTNS and AI can be effective tools to aid in the correct choice of orthotics in patients affected by CMT.

scholarly journals Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F

2019 ◽  
Vol 48 (2) ◽  
pp. 030006051986206
Author(s):  
Yu-hui Chen ◽  
Hua Zhang ◽  
Ling-bing Meng ◽  
Xiao-yan Tang ◽  
Tao Gong ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Patients ◽  
Homozygous Mutation ◽  
Hereditary Neuropathy ◽  
Limb Weakness ◽  
Pes Cavus ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Levels ◽  
First Case

Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy. Mutations in the periaxin gene ( PRX) can cause CMT type 4F, an autosomal recessive neuropathy, which is clinically characterized by slowly progressive distal muscle atrophy and weakness, with pes cavus deformity of the foot, and the absence of deep tendon reflexes. To date, dozens of reports of PRX mutations have been published worldwide, but none have been reported in Chinese patients. Here, we describe a 14-year-old Chinese boy with neuropathy characterized by slowly progressive limb weakness and atrophy, as well as sensory ataxia, whose cerebrospinal protein levels were 1627 mg/L. Genetic analysis identified a novel homozygous mutation, c.1174C>T (p.R392X), in exon 6 of PRX, which is the first case of its kind recorded in China.

CMT with pyramidal features

Neurology ◽  
2003 ◽  
Vol 60 (4) ◽  
pp. 696-699 ◽  
Author(s):  
S. Vucic ◽  
M. Kennerson ◽  
D. Zhu ◽  
E. Miedema ◽  
C. Kok ◽  
...  
Keyword(s):  
Sensory Loss ◽  
Linkage Studies ◽  
Pes Cavus ◽  
Charcot Marie Tooth ◽  
Axonal Cmt ◽  
Chromosomal Loci ◽  
Spastic Gait

To determine whether Charcot-Marie-Tooth (CMT) with pyramidal features is genetically distinct from other dominantly inherited axonal neuropathies, the authors examined all chromosomal loci and genes for axonal CMT. Two families were identified with an axonal CMT phenotype with distal wasting, weakness, pes cavus, sensory loss, and mild pyramidal signs (including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait). Linkage studies excluded CMT2A, 2B, 2D, 2E, and 2F; ALS4; and HMN2. There were no mutations in the PMP22, MPZ/Po, or EGR2 genes.

scholarly journals PENYAKIT CHARCOT MARIE TOOTH ONSET LANJUT

2020 ◽  
Vol 37 (2) ◽  
Author(s):  
Kenny Merryn ◽  
Jimmi Sabirin ◽  
Octaviani Octaviani
Keyword(s):  
Ascorbic Acid ◽  
Physical Examination ◽  
Muscle Atrophy ◽  
Late Onset ◽  
Pes Cavus ◽  
Charcot Marie Tooth ◽  
Longus Muscle ◽  
Extensor Hallucis Longus ◽  
Hammer Toes ◽  
Extensor Hallucis Longus Muscle

LATE ONSET CHARCOT MARIE TOOTH DISEASEABSTRACTCharcot Marie Tooth’s disease (CMT) is a hereditary sensoric motoric polineuropathy. Late onset CMT are rare reported in Indonesia. A woman 48 years old has numbness in her both arm and leg gradually since 5 years ago, followed by deformities and weakness. Her cousin has the same disease. In physical examination, there were flaccid type tetraparesis, socks and gloves hypesthesia, steppage gait, pes cavus, hammer toes, thenar, hypothenar, and extensor hallucis longus muscle atrophy bilaterally. Electrophysiology studies showed mixed sensoric and motoric polineuropathy with symetrically demyelinating and uniform slowing. Management were ascorbic acid, neurotrophic, physiotherapy, and occupational therapy.Keywords: Charcot Marie Tooth, hammer toes, pes cavus, steppage gaitABSTRAKPenyakitCharcot Marie Tooth (CMT) merupakan polineuropati motorik dan sensorik herediter. Kasus CMT onset lanjut di Indonesia masih sangat jarang dilaporkan. Seorang wanita 48 tahun mengalami kesemutan pada kedua lengan dan tungkai sejak 5 tahun secara perlahan diikuti perubahan bentuk tangan dan kaki serta kelemahan. Riwayat sepupu mengalami keluhan serupa. Pemeriksaan fisik didapatkan kelemahan kedua lengan dan tungkai tipe flaksid, hipestesi pola sarung tangan dan kaos kaki, steppage gait, pes cavus, hammer toes, atrofi otot tenar, hipotenar, dan ekstensor halusis longus bilateral. Pemeriksaan elektrofisiologi didapatkan polineuropati motorik sensorik dengan demielinisasi simetris dan perlambatan kecepatan konduksi seragam. Tata laksana pasien ini menggunakan asam askorbat, neurotropik, fisioterapi, dan terapi okupasi.Kata kunci: Charcot Marie Tooth, hammer toes, pes cavus, steppage gait

Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric charcot-marie-tooth disease type 1A

2010 ◽  
Vol 42 (2) ◽  
pp. 262-267 ◽  
Author(s):  
Joshua Burns ◽  
Adam Scheinberg ◽  
Monique M. Ryan ◽  
Kristy J. Rose ◽  
Robert A. Ouvrier
Keyword(s):  
Botulinum Toxin ◽  
Randomized Trial ◽  
Disease Type ◽  
Pes Cavus ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A

2021 ◽  
Author(s):  
Helen AZEVEDO ◽  
Henrique COSTA ◽  
Eduardo DAVIDOVICH ◽  
Camila PUPE ◽  
Osvaldo José Moreira NASCIMENTO
Keyword(s):  
Neuropathic Pain ◽  
Clinical Evaluation ◽  
Disease Type ◽  
Moderate Intensity ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Clinical Criteria ◽  
Charcot Marie Tooth Disease ◽  
Sf 36 ◽  
Tooth Disease

ABSTRACT Background: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of hereditary neuropathy. Objective: To investigate the prevalence and characteristics of pain in patients with CMT1A. Methods: Nineteen patients with a diagnosis of CMT1A were evaluated between September 2018 and October 2019, and other causes of neuropathy were ruled out. The following tools were used for the pain assessment: neurological assessment, LANSS, DN4, clinical evaluation, VAS, CMTNS2 and SF-36. Statistical analysis was performed using prevalence analysis, t test, chi-square test and Spearman's rho. Results: The prevalence of pain was 84.2% in the sample of this study, with moderate intensity and nociceptive characteristics according to the LANSS scale (75%) and clinical evaluation (50%), but differing from DN4, which found neuropathic pain in the majority of the patients (56.2%). Mixed pain was also observed in 43.7% of the patients, according to clinical criteria. There was a statistically significant correlation between pain intensity and SF-36, thus demonstrating that the lower the pain was, the lower the impairment was, in all domains. Conclusion: Pain is a prevalent and important symptom in CMT1A, with moderate intensity and nociceptive characteristics according to two tools, but neuropathic pain is also present, and there may even be a mixed pattern of pain. The correlation of the pain with SF-36 suggests that pain relief could provide improvements to the quality of life of these individuals.

Foot measures in patients with pes cavus with and without charcot-marie-tooth disease: A pilot study

2018 ◽  
Vol 59 (1) ◽  
pp. 122-125
Author(s):  
Amro M. Stino ◽  
Said Atway ◽  
Michael Anthony ◽  
David Kline ◽  
John T. Kissel
Keyword(s):  
Pilot Study ◽  
Pes Cavus ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Neurology

2012 ◽  
Author(s):  
Gerry Christofi ◽  
Guy Leschziner
Keyword(s):  
Motor Neuron ◽  
Nerve Root ◽  
Time Of Day ◽  
Sensory Loss ◽  
Sensory Level ◽  
Gait Ataxia ◽  
Pes Cavus ◽  
Charcot Marie Tooth Disease ◽  
Neurological Problem ◽  
Sensory Involvement

The neurology section of the PACES examination is often the major cause of (unnecessary!) anxiety for MRCP candidates. The key is to approach the patient in a logical fashion. Some neurology cases are simply an exercise in pattern recognition – noticing the frontal balding and ptosis of myotonic dystrophy, the distal wasting and pes cavus of Charcot–Marie–Tooth disease, for example. However, in those cases without obvious clues to the underlying diagnosis, a clear systematic approach will usually pay dividends. When faced with a neurological problem, the first question that should be posed is the site of the lesion. During the course of the examination, identify signs that might help in localization: • Cortex: signs of dysfunction of higher cognitive function. • Subcortical: upper motor neuron (UMN) signs (hypertonia, pyramidal pattern of weakness, hyper-reflexia, extensor plantars), slowness of thought. • Basal ganglia: cogwheel rigidity, resting tremor, bradykinesia, postural instability, dyskinesias, dystonias. • Brainstem: cranial nerve abnormalities with contralateral UMN signs. • Cerebellum: gait ataxia, nystagmus, finger-nose ataxia, past-pointing. • Spinal cord: bilateral UMN signs, presence of a sensory level. • Nerve root: lower motor neuron (LMN) signs (wasting, weakness, hyporeflexia, sensory loss) in a myotomal or dermatomal distribution. • Single or multiple nerve/plexus: LMN signs that are focal, and are not consistent with a nerve root lesion. • Polyneuropathy: LMN signs, more pronounced distally, affecting the legs more than the hands, diminished reflexes, sensory signs. • Neuromuscular junction: weakness without sensory involvement or significant wasting, usually but not invariably proximal, which fluctuates (either with time of day or during the course of the examination). • Muscle: wasting and weakness with normal reflexes and sensation. Once the lesion has been localized, consider the disease processes that commonly affect that site. Clues may be obtained from the history, if you are permitted to ask questions. The most helpful aspect of the history is usually the speed of onset: • Seconds: electrical disturbance (i.e. epilepsy), trauma. • <5 minutes: infarction. • > 5 minutes: migraine, haemorrhage. • Minutes–hours: infection, inflammation, drugs. • Hours–days: infection, inflammation, nutritional, drugs.

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