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2.
Neurol Sci ; 43(4): 2853-2858, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35088241

RESUMEN

DYNC1H1 variants are associated with broad phenotypes including Charcot-Marie-Tooth disease, spinal muscular atrophy, and mental retardation. However, DYNC1H1 variants related intractable epilepsy have not yet been described in detail so far. Herein, we describe the detailed clinical manifestations of a female patient, carrying a novel de novo variant in DYNC1H1 (p.H311Y), who presented with malformation of cortical development (MCD), refractory epilepsy, intellectual disability, and lower motor neuron disease. We provide a review of previously reported patients who presented with epilepsy associated with DYNC1H1 variants. Of the patients with epilepsy, the DYNC1H1 variants were distributed, on average, in the tail, linker, and motor domains, rather than being mainly distributed in the tail domain as previously reported.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Epilepsia Refractaria , Discapacidad Intelectual , Atrofia Muscular Espinal , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/genética , Dineínas Citoplasmáticas/genética , Epilepsia Refractaria/genética , Femenino , Humanos , Discapacidad Intelectual/genética , Atrofia Muscular Espinal/genética , Mutación , Fenotipo , Secuenciación del Exoma Completo
3.
BMC Neurol ; 22(1): 17, 2022 Jan 07.
Artículo en Inglés | MEDLINE | ID: mdl-34996390

RESUMEN

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous hereditary neuropathy, and CMT1A is the most common form; it is caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. Mutations in the transient sodium channel Nav1.4 alpha subunit (SCN4A) gene underlie a diverse group of dominantly inherited nondystrophic myotonias that run the spectrum from subclinical myopathy to severe muscle stiffness, disabling weakness, or frank episodes of paralysis. CASE PRESENTATION: We describe a Chinese family affected by both CMT1A and myotonia with concomitant alterations in both the PMP22 and SCN4A genes. In this family, the affected proband inherited the disease from his father in an autosomal dominant manner. Genetic analysis confirmed duplication of the PMP22 gene and a missense c.3917G > C (p. Gly1306Ala) mutation in SCN4A in both the proband and his father. The clinical phenotype in the proband showed the combined involvement of skeletal muscle and peripheral nerves. Electromyography showed myopathic changes, including myotonic discharges. MRI revealed the concurrence of neurogenic and myogenic changes in the lower leg muscles. Sural nerve biopsies revealed a chronic demyelinating and remyelinating process with onion bulb formations in the proband. The proband's father presented with confirmed subclinical myopathy, very mild distal atrophy and proximal hypertrophy of the lower leg muscles, pes cavus, and areflexia. CONCLUSION: This study reports the coexistence of PMP22 duplication and SCN4A mutation. The presenting features in this family suggested that both neuropathy and myopathy were inherited in an autosomal dominant manner. The proband had a typical phenotype of sodium channel myotonia (SCM) and CMT1A. However, his father with the same mutations presented a much milder clinical phenotype. Our study might expand the genetic and phenotypic spectra of neuromuscular disorders with concomitant mutations.


Asunto(s)
Artrogriposis , Enfermedad de Charcot-Marie-Tooth , Miotonía , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/genética , Humanos , Masculino , Proteínas de la Mielina , Canal de Sodio Activado por Voltaje NAV1.4/genética , Proteínas
4.
Neurol Sci ; 43(4): 2759-2764, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34613504

RESUMEN

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.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/diagnóstico , Enfermedad de Charcot-Marie-Tooth/terapia , Pie , Humanos , Estudios Retrospectivos , Caminata
5.
Foot Ankle Int ; 43(4): 504-508, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34889125

RESUMEN

BACKGROUND: Outpatient surgical deformity correction for Charcot-Marie-Tooth (CMT) disease is limited by effective postoperative pain control. Our previous institutional protocol for foot and ankle surgery in this population included preoperative single-injection nerve blocks, but patients often experienced uncontrolled pain when the block wore off postoperative day 0 or 1, resulting in high opioid requirements and unplanned emergency department visits. The use of ultrasonography-guided continuous nerve catheters in CMT patients has not previously been studied. We aimed to prospectively investigate the safety and efficacy of ultrasonography-guided indwelling popliteal catheters in CMT patients undergoing outpatient foot deformity correction surgery. METHODS: Twenty CMT patients, average 28 (range 13-53) years old, undergoing reconstructive surgery by a single foot and ankle attending surgeon were consented for preoperative ultrasonography-guided popliteal catheters. This series included 24 total outpatient procedures; 4 were staged bilateral. Indwelling popliteal catheters were maintained on discharge, providing continuous infusion until postoperative day (POD) 3, and then self-discontinued. Patients were prescribed oxycodone 5 mg (60-80 pills) as needed for breakthrough pain. Outcomes collected included daily pain scores (0-10), an opioid pill count on POD 14, and patient satisfaction ratings. Neurologic evaluation by 5-point 10g Semmes-Weinstein monofilament testing was performed preoperatively and on POD 14. RESULTS: There were no observed catheter-site infections or hematomas. Nine of the patients had pre-existing sensory deficits involving at least 2 areas on the 5-point monofilament test. Postoperative testing showed these deficits were unchanged and there were no instances of new sensory deficits. Postoperative pain scores were typically low, with median values (interquartile ranges [IQRs]) of 3.5 (2.0-5.0) on POD 1, 2.5 (2.0-5.0) on POD 2, and 2.5 (1.0-3.75) on POD 3. At POD 14, pain was 1.0 (0-1.0). Patients consumed a median of 25 oxycodone pills (IQR 8-43) over 2 weeks, less than half the prescribed number. Patient satisfaction was high. All patients reported they would choose to have a nerve catheter again for a similar surgery. CONCLUSION: This cases series demonstrated that regional anesthesia using ultrasonography-guided indwelling popliteal catheters was safe and effective for pain control in CMT patients undergoing outpatient foot and ankle surgery. Opioid consumption was comparable to published rates following major bony procedures, and no patients required emergent treatment or hospital admission for uncontrolled pain. No new sensory deficits were detected and patients with underlying sensory deficits remained unchanged. Patients were highly satisfied. LEVEL OF EVIDENCE: Level IV, case series.


Asunto(s)
Analgésicos Opioides , Enfermedad de Charcot-Marie-Tooth , Adolescente , Adulto , Catéteres de Permanencia , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/cirugía , Humanos , Persona de Mediana Edad , Pacientes Ambulatorios , Oxicodona/uso terapéutico , Dimensión del Dolor , Dolor Postoperatorio/prevención & control , Estudios Prospectivos , Adulto Joven
6.
Neurol Sci ; 43(1): 705-707, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34532771

RESUMEN

We reported one patient with Charcot-Marie-Tooth type 4C (CMT4C) who developed seropositive myasthenia gravis. Neuromuscular junction alterations in CMT4C patients have not yet been reported. However, few patients have been reported to simultaneously have MG and CMT, but none with CMT4C. Our report suggests that additional research is required to confirm whether genetic neuropathies may predispose to MG.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Miastenia Gravis , Enfermedad de Charcot-Marie-Tooth/complicaciones , Humanos , Miastenia Gravis/complicaciones , Unión Neuromuscular
7.
Can J Anaesth ; 69(3): 364-368, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34902106

RESUMEN

PURPOSE: Prolonged postoperative neuromuscular respiratory paralysis after administration of a nondepolarizing neuromuscular blocking agent is a serious concern during anesthetic management of patients with Charcot-Marie-Tooth disease (CMTD). Some recent reports have described rocuronium use without respiratory paralysis in CMTD patients when sugammadex was used for its reversal. We report a case in which an induction dose of rocuronium caused a prolonged respiratory paralysis in a patient with undiagnosed type 1A CMTD (CMT1A). CLINICAL FEATURES: A 63-yr-old-male with an American Society of Anesthesiologists Physical Status score of III underwent a left hip arthroplasty under general anesthesia for osteoarthritis. Preoperative pulmonary function testing indicated a restrictive impairment. Anesthesia was induced with fentanyl, remifentanil, propofol, and 0.73 mg·kg-1 of rocuronium. The train-of-four (TOF) count was 0 for the 273-min duration of surgery. After repeated doses of sugammadex failed to recover the TOF count and spontaneous respirations, a total of 1,200 mg (17.3 mg·kg-1) of sugammadex, which was assumed to be a sufficient amount for capturing the residual rocuronium, was administered. Although the patient expressed that he was awake via eye blinking, he could not breathe. Thus, he was placed on mechanical ventilation for 18 hr after surgery. A postoperative neurology consultation revealed a delayed nerve conduction velocity of 20 m·sec-1 and a mutated duplication of the PMP22 gene; a diagnosis of CMT1A was made. CONCLUSIONS: Our case shows that rocuronium can cause a prolonged neuromuscular respiratory paralysis refractory to sugammadex in patients with CMT1A and impaired respiratory function. Our case may also indicate that restrictive pulmonary impairment and low nerve conduction velocity of 20 m·sec-1 are predictive factors that cause prolonged neuromuscular respiratory paralysis refractory to sugammadex in CMT1A.


RéSUMé: OBJECTIF: La paralysie respiratoire neuromusculaire postopératoire prolongée après l'administration d'un bloqueur neuromusculaire non dépolarisant est une préoccupation sérieuse lors de la prise en charge anesthésique des patients atteints de la maladie de Charcot-Marie-Tooth (CMT). Certains comptes rendus récents ont décrit l'utilisation de rocuronium sans paralysie respiratoire chez les patients atteints de CMT lorsque le sugammadex était utilisé pour le neutraliser. Nous rapportons un cas dans lequel une dose d'induction de rocuronium a provoqué une paralysie respiratoire prolongée chez un patient atteint de CMT de type 1A (CMT1A) non diagnostiquée. CARACTéRISTIQUES CLINIQUES: Un homme de 63 ans avec un score de statut physique III selon la classification de l'American Society of Anesthesiologists a bénéficié d'une arthroplastie de la hanche gauche sous anesthésie générale pour son ostéo-arthrite. Les tests préopératoires de la fonction pulmonaire ont indiqué un syndrome restrictif. L'anesthésie a été induite avec du fentanyl, du rémifentanil, du propofol et 0,73 mg·kg-1 de rocuronium. Le décompte du train-de-quatre (TdQ) était de 0 pour toute la durée de la chirurgie, soit 273 minutes. Après l'échec de doses répétées de sugammadex qui n'ont pas réussi à rétablir un TdQ normal ni la respiration spontanée, un total de 1200 mg (17,3 mg·kg-1) de sugammadex (une quantité qu'on a présumé suffisante pour neutraliser le rocuronium résiduel) a été administré. Bien que le patient ait exprimé qu'il était éveillé en clignant des yeux, il ne pouvait pas respirer. Il a donc été placé sous ventilation mécanique pendant 18 heures après l'opération. Une consultation postopératoire en neurologie a révélé une vitesse de conduction nerveuse retardée de 20 m·sec-1 et une duplication mutée du gène PMP22; un diagnostic de CMT1A a été posé. CONCLUSIONS: Notre cas montre que le rocuronium peut provoquer une paralysie respiratoire neuromusculaire prolongée réfractaire au sugammadex chez les patients atteints de CMT1A et d'une altération de la fonction respiratoire. Notre cas pourrait également indiquer qu'un syndrome restrictif pulmonaire et une faible vitesse de conduction nerveuse de 20 m·sec-1 constituent des facteurs prédictifs provoquant une paralysie respiratoire neuromusculaire prolongée réfractaire au sugammadex dans les cas de CMT1A.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Bloqueo Neuromuscular , Fármacos Neuromusculares no Despolarizantes , Parálisis Respiratoria , Androstanoles/efectos adversos , Periodo de Recuperación de la Anestesia , Anestesia General , Enfermedad de Charcot-Marie-Tooth/inducido químicamente , Enfermedad de Charcot-Marie-Tooth/complicaciones , Humanos , Masculino , Bloqueo Neuromuscular/efectos adversos , Parálisis Respiratoria/inducido químicamente , Rocuronio , Sugammadex
9.
Neurology ; 97(17): e1727-e1736, 2021 10 26.
Artículo en Inglés | MEDLINE | ID: mdl-34493614

RESUMEN

BACKGROUND AND OBJECTIVES: This study examined the association between body mass index (BMI) and disability in children with Charcot-Marie-Tooth disease (CMT). METHODS: We conducted a cross-sectional analysis of 477 patients with CMT who were 3 to 20 years of age from the Inherited Neuropathy Consortium and 316 age- and sex-matched healthy children from the 1,000 Norms Project. BMI was categorized according to the International Obesity Task Force (IOTF) criteria, and BMI categorization was compared with healthy children. IOTF categories (adult equivalent BMI cut points) were severely underweight (BMI <17 kg/m2), underweight (BMI ≥17-<18.5 kg/m2), healthy weight (BMI ≥18.5-<25 kg/m2), overweight (BMI ≥25-<30 kg/m2), and obese (BMI ≥30 kg/m2). Scores on the 0 to 44-point CMT Pediatric Scale (CMTPedS), a well-validated measure of disability, were examined in relation to BMI. RESULTS: There was a higher proportion of children with CMT categorized as severely underweight (5.7% vs 0.3%), underweight (10.3% vs 5.1%), and obese (7.3% vs 3.8%) (p < 0.05). Fewer children with CMT were categorized as healthy weight (61.8% vs 74.4%) (p < 0.05), and the proportion of overweight (14.9% vs 16.5%) between groups was similar. CMTPedS scores (mean ± SD) for weight categories were as follows: severely underweight 27 ± 9, underweight 20 ± 8, healthy weight 17 ± 9, overweight 17 ± 9, and obese 22 ± 10. Compared to children with a healthy weight with CMT, being severely underweight was associated with being more disabled (p < 0.001), as was being obese (p = 0.015). DISCUSSION: The proportion of children with CMT who are underweight or obese is higher compared to age- and sex-matched healthy children. In children with CMT, being underweight or obese is associated with greater disability, when compared to children with CMT of healthy weight.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/complicaciones , Obesidad/epidemiología , Delgadez/epidemiología , Adolescente , Índice de Masa Corporal , Niño , Preescolar , Estudios Transversales , Evaluación de la Discapacidad , Femenino , Humanos , Masculino , Adulto Joven
10.
A A Pract ; 15(6): e01488, 2021 Jun 02.
Artículo en Inglés | MEDLINE | ID: mdl-34081063

RESUMEN

Kearns Sayre syndrome (KSS) is a rare mitochondrial myopathy that is associated with progressive impaired ventilatory drive, heart block, and peripheral neuropathy. Charcot-Marie-Tooth disease (CMT) is a rare chronic motor and sensory peripheral neuropathy which includes muscle weakness and restrictive pulmonary impairment. Patients with either condition having anesthesia can have postoperative respiratory failure. We report a 52-year-old man diagnosed with variants of KSS and CMT presenting for supraventricular tachycardia (SVT) ablation. This is the first report of successful perioperative management of a general anesthetic in a patient with both KSS and CMT.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Síndrome de Kearns-Sayre , Insuficiencia Respiratoria , Taquicardia Supraventricular , Anestesia General , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/cirugía , Humanos , Masculino , Persona de Mediana Edad , Taquicardia Supraventricular/cirugía
11.
J Diabetes Investig ; 12(11): 2099-2101, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33991180

RESUMEN

Both diabetes mellitus and Charcot-Marie-Tooth disease (CMT) can lead to severe peripheral neuropathy. The differential diagnosis of peripheral neuropathy is difficult due to the similar clinical features. There are still some clues, such as unusual muscle atrophy, unmatched severity of peripheral neurogenic damage with nephropathy or retinopathy, which could alert clinicians to make differential diagnosis. Although diabetes mellitus is rarely concurrent with CMT, it will exacerbate clinical disorders in patients with CMT. To date, there is no specific medicine for CMT treatment. Offloading devices and desirable comprehensive management of diabetes mellitus might be beneficial to avoid plantar ulcer recurrence and anti-progression of CMT.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/diagnóstico , Diabetes Mellitus Tipo 2/complicaciones , Pie Diabético/diagnóstico , Úlcera del Pie/diagnóstico , Adulto , Enfermedad de Charcot-Marie-Tooth/complicaciones , Pie Diabético/etiología , Diagnóstico Diferencial , Errores Diagnósticos , Úlcera del Pie/etiología , Humanos , Masculino , Ilustración Médica , Recurrencia
12.
J Rehabil Med ; 53(5): jrm00194, 2021 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-33880570

RESUMEN

Gait impairments in people with Charcot Marie Tooths disease are the combined result of ankle-foot deformities, muscle weakness, and somatosensory impairments. People with Charcot-Marie-Tooth disease often experience pain and difficulties when walking, especially barefoot. They also trip and fall frequently and have a lower than normal gait speed and distance. Because these gait impairments and related complaints are disabling, clinical management aimed at improving gait is important. Management involves both conservative and surgical treatment options, each with limited scientific evidence. However, a treatment algorithm that describes both conservative and surgical treatment options is currently lacking. This study sets out a step-wise treatment algorithm, based on evidence, if available, and otherwise reflecting practice-based experience. The treatment algorithm will be of value in daily clinical practice, and will serve as a template for future research.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/complicaciones , Trastornos Neurológicos de la Marcha/etiología , Trastornos Neurológicos de la Marcha/terapia , Marcha/fisiología , Caminata/fisiología , Adolescente , Algoritmos , Enfermedad de Charcot-Marie-Tooth/patología , Niño , Femenino , Humanos , Masculino
13.
Diabetes Res Clin Pract ; 175: 108795, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33872633

RESUMEN

AIMS: The principal aim of this study was to identify a cut-off point along the spectrum of peak plantar midfoot pressure that has an optimum combination of sensitivity and specificity to screen for neuropathic ulceration in patients with Charcot neuroarthropathy (CN). METHODS: A 1-year outcome study was performed in twenty-five patients with diabetes, affected with chronic CN midfoot deformity. Peak plantar pressure (PPP) and pressure/time Integral (PTI) in the midfoot region were registered. For selecting the optimal diagnostic cut-off points on the scale of pressure measurement, ROC curves were used. RESULTS: Twelve (48%) patients developed a plantar midfoot ulcer. Baseline PPP (24.04 ± 6.33 Vs. 12.85 ± 3.29 N/cm2) and PTI (11.89 ± 4.60 Vs. 5.42 ± 2.26 N/cm2/s) were significantly higher in the ulcerated group (p < .001 and p < .001, respectively). Using ROC analyses, optimal cut-off point for PPP was 16.45 N/cm2, yielding a sensitivity of 92% and a specificity of 85%; and for PTI, optimal cut-off point was 7.2 N/cm2/s, yielding a sensitivity of 92% and a specificity of 77%. CONCLUSIONS: Patients with CN midfoot deformity with cut-off values for PPP of 16.45 N/cm2 and PTI of 7.2 N/cm2/s showed an elevated risk of neuropathic ulceration in the plantar area of the midfoot.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/complicaciones , Pie Diabético/complicaciones , Enfermedad de Charcot-Marie-Tooth/patología , Femenino , Úlcera del Pie/fisiopatología , Humanos , Masculino , Valor Predictivo de las Pruebas
14.
J Peripher Nerv Syst ; 26(2): 187-192, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33650166

RESUMEN

Foot deformities are frequently observed in patients with Charcot Marie tooth disease (CMT) and orthopaedic surgery is often required. Currently there is no evidence-based guideline on surgical management and only a few studies which have evaluated long-term outcomes of surgical procedures. The aim of the study was to evaluate longitudinally the effect of foot surgery in a cohort of CMT patients. Twenty-five CMT adult patients were assessed using a comprehensive group of validated scales and questionnaires before and after surgery. A wide range of surgical procedures was performed by one team of dedicated foot ankle orthopaedic surgeons. Foot alignment as measured by the foot posture index, pain, quality of life and callosities significantly improved after one year and the improvement was maintained up to 4 years after surgery. There was a trend towards a reduction in the number of falls post-operatively. Surgery had no effect on fatigue, balance and CMT examination score. Our findings showed significant improvement of pain, foot alignment, callosities and quality of life after surgery and suggested that foot deformity correction in adults with CMT performed in a specialised foot and ankle unit is beneficial.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Deformidades del Pie , Callosidades , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/cirugía , Deformidades del Pie/cirugía , Humanos , Dolor , Estudios Prospectivos , Calidad de Vida
15.
BMC Neurol ; 21(1): 64, 2021 Feb 11.
Artículo en Inglés | MEDLINE | ID: mdl-33573605

RESUMEN

BACKGROUND: ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal recessive cutis laxa type 3A (ARCL3A). These diseases exhibit a broad clinical spectrum, which makes the diagnosis of P5CS deficiency difficult. We report here a rare Japanese family including both patients with an ALDH18A1 mutation (SPG9A) and ones with CMT1A. CASE PRESENTATION: A Japanese family included five patients with the CMT phenotype and five with the HSP phenotype in four generations. The patients with the HSP phenotype showed a pure or complicated form, and intrafamilial clinical variability was noted. Genetically, FISH analysis revealed that two CMT patients had a PMP22 duplication (CMT1A). Exome analysis and Sanger sequencing revealed five HSP patients had an ALDH18A1 heterozygous mutation of c.755G > A, which led to SPG9A. Haplotype analysis revealed that the ALDH18A1 mutation must have newly occurred. To date, although de novo mutations of ALDH18A1 have been described in ADCL3A, they were not mentioned in SPG9A in earlier reports. Thus, this is the first SPG9A family with a de novo mutation or the new occurrence of gonadal mosaicism of ALDH18A1. Analysis of serum amino acid levels revealed that two SPG9A patients and two unaffected family members had low citrulline levels and one had a low level of ornithine. CONCLUSIONS: Since the newly occurring ALDH18A1 mutation, c.755G > A, is the same as that in two ADHSP families and one sporadic patient with SPG9A reported previously, this genomic site might easily undergo mutation. The patients with the c.755G > A mutation in our family showed clinical variability of symptoms like in the earlier reported two families and one sporadic patient with this mutation. Further studies are required to clarify the relationship between the amino acid levels and clinical manifestations, which will reveal how P5CS deficiency influences disease phenotypes including ARCL3A, ADCL3, SPG9B, and SPG9A.


Asunto(s)
Aldehído Deshidrogenasa/genética , Huesos/anomalías , Catarata/complicaciones , Catarata/genética , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/genética , Trastornos del Crecimiento/complicaciones , Trastornos del Crecimiento/genética , Paraplejía Espástica Hereditaria/complicaciones , Paraplejía Espástica Hereditaria/genética , Adulto , Femenino , Heterocigoto , Humanos , Masculino , Mutación , Proteínas de la Mielina/genética , Linaje , Fenotipo
16.
Otol Neurotol ; 42(6): e635-e642, 2021 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-33625198

RESUMEN

OBJECTIVE: To study the pathophysiology of Charcot-Marie-Tooth disease (CMT) with auditory neuropathy (AN) and to follow up cochlear implant or hearing aid use over the long term. STUDY DESIGN: Clinical capsule report. PATIENTS: Two adult CMT patients with AN. INTERVENTION: Cochlear implantation for case 1 and hearing aid use for case 2. RESULT: Case 1 was a 50-year-old man who was diagnosed as having CMT at 15 years of age. He noted his hearing impairment at the age of 22. We considered that he had AN as a complication on the basis of the findings of normal distortion product otoacoustic emission and the absence of auditory brainstem response on both ears. We performed cochlear implantation for his progressive hearing loss when he was 41 years old. His postoperative discrimination scores for words and sentences in the CI-2004 test 4 years after cochlear implantation were 80% and 93%, respectively. His sound discrimination scores were 23/24 in the test with picture matching and 9/24 in that without picture matching 8 years after cochlear implantation.Case 2 was a 38-year-old woman who was neurologically diagnosed as having CMT with AN as a complication on the basis of auditory brainstem response and distortion product otoacoustic emission test findings. During 15 years of follow-up, her discrimination score decreased gradually. She is currently wearing a hearing aid. CONCLUSIONS: We found a significant improvement in case 1 and a slight increase in hearing level in case 2. The pathoneurological findings of CMT might be either demyelination or axonal degeneration depending on the type of genetic abnormality (e.g., PMP22 and MPZ mutations). The symptoms and courses vary among patients with CMT. Therefore, the selection of an appropriate intervention for hearing loss depending on the severity and course is very important.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Implantación Coclear , Implantes Cocleares , Audífonos , Adulto , Enfermedad de Charcot-Marie-Tooth/complicaciones , Femenino , Estudios de Seguimiento , Pérdida Auditiva Central , Humanos , Masculino , Persona de Mediana Edad
17.
Foot Ankle Surg ; 27(8): 865-868, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33272751

RESUMEN

Charcot Marie Tooth disease (CMT) is the most common inherited neuropathy and is also called Hereditary Motor Sensory Neuropathy (HMSN). Whilst both motor and sensory deficits are present, motor deficits tend to predominate over sensory deficits. Charcot neuroarthropathic joints occur in conditions, most commonly diabetes nowadays, where joints are destroyed in association with reduced protective sensation, pain in particular. Three cases of development of Charcot joint disorders in patients with CMT are discussed and the literature is reviewed. Orthopaedic surgeons should be aware that Charcot joints can occur in CMT and surgery can be complicated by Charcot joints.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/genética , Humanos
18.
J Neuroophthalmol ; 41(2): 233-238, 2021 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-32441898

RESUMEN

BACKGROUND: Charcot-Marie-Tooth disease Type 2A (CMT2A) presents with optic atrophy in a subset of patients, but the prevalence and severity of optic nerve involvement in relation to other CMT subtypes has not been explored. METHODS: Patients with genetically confirmed CMT2A (n = 5), CMT1A (n = 9) and CMTX1 (n = 10) underwent high- and low-contrast acuity testing using Sloan letter charts, and circumpapillary retinal nerve fiber layer (RNFL) and macular total retinal, RNFL, and ganglion cell layer/inner plexiform layer thickness was measured using spectral domain optical coherence tomography (OCT). We used age- and gender-adjusted linear regression to compare contrast acuity and retinal thickness between CMT groups. RESULTS: One of 5 patients with CMT2A had optic nerve atrophy (binocular high-contrast acuity equivalent 20/160, mean circumpapillary RNFL 47.5 µm). The other patients with CMT2A had normal high- and low-contrast acuity and retinal thickness, and there were no significant differences between patients with CMT2A, CMT1A, and CMTX1. CONCLUSIONS: Optic atrophy occurs in some patients with CMT2A, but in others, there is no discernible optic nerve involvement. This suggests that optic neuropathy is specific to certain MFN2 mutations in CMT2A and that low-contrast acuity or OCT is of limited value as a disease-wide biomarker.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedades del Nervio Óptico/etiología , Nervio Óptico/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Anciano , Enfermedad de Charcot-Marie-Tooth/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fibras Nerviosas/patología , Enfermedades del Nervio Óptico/diagnóstico , Enfermedades del Nervio Óptico/fisiopatología , Agudeza Visual
19.
Auris Nasus Larynx ; 48(2): 327-330, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32265048

RESUMEN

Two patients with auditory neuropathy spectrum disorder (ANSD) considered to be associated with Charcot-Marie-Tooth (CMT) are reported. In case 1, a 23-year-old man presented with progressive bilateral sensorineural hearing loss (SNHL) from 10 years of age and was diagnosed with ANSD. He was later diagnosed with CMT by neurological testing. In case 2, a 16-year-old girl, the younger sister of the patient in case 1, presented with progressive SNHL with similar auditory findings since 6 years of age as those of her brother. Both cases underwent bilateral cochlear implantation. In case 1, the maximum discrimination score improved to 45% 24 months after the first side of cochlear implantation from 5% before the surgery. In case 2, the score was 5% 10 months after cochlear implant (CI) surgery from 0% before the surgery. CI treatment for CMT patients has been considered difficult because of both failure in synchronization of nerve conduction due to demyelination and axonal failure of the auditory nerve. Though slower progress compared to the average subset of patients receiving CI was seen, significant improvement was gradually observed in the present patients after bilateral cochlear implantations. CI is thus a viable option for rehabilitation of SNHL in CMT patients.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/rehabilitación , Implantación Coclear , Implantes Cocleares , Pérdida Auditiva Central/cirugía , Pérdida Auditiva Sensorineural/cirugía , Adolescente , Umbral Auditivo , Enfermedad de Charcot-Marie-Tooth/complicaciones , Progresión de la Enfermedad , Femenino , Pérdida Auditiva Central/etiología , Pérdida Auditiva Central/rehabilitación , Pérdida Auditiva Sensorineural/etiología , Pérdida Auditiva Sensorineural/rehabilitación , Humanos , Masculino , Adulto Joven
20.
J Neurol ; 268(2): 526-531, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32862243

RESUMEN

OBJECTIVE: To find out if Charcot-Marie-Tooth (CMT) patients, who have peripheral vestibular as well as peripheral somatosensory impairment, have worse postural balance than those who do not. METHODS: We studied 32 patients with various CMT phenotypes and genotypes. Vestibular function was measured with the video head impulse test (vHIT) which tests vestibulo-ocular reflex (VOR) gain from each of the six semicircular canals in response to rapid head rotations. Postural balance was evaluated with a battery of four postural tests with emphasis on the modified clinical test of sensory integration in balance (mCTSIB). RESULTS: Half of the 32 patients had some impairment of vestibular function ranging from mild, affecting only 1-2 semicircular canals, to almost total affecting all 6 semicircular canals. Their mCTSIB scores correlated with VOR gain from the vertical rather than from the lateral semicircular canals. The worse the vertical VOR gain the worse the mCTSIB score. CONCLUSION: We propose that any CMT patient could have clinically inapparent vestibular impairment that can be easily measured with the vHIT. This vestibular impairment could be contributing to their imbalance and could respond to a focused vestibular rehabilitation program.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Vestíbulo del Laberinto , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/genética , Prueba de Impulso Cefálico , Humanos , Reflejo Vestibuloocular , Canales Semicirculares
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