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3.
Intern Med ; 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38494718

RESUMO

Objective In 2022, Wenning et al. proposed the Movement Disorder Society Criteria (MDS Criteria) for the Diagnosis of Multiple System Atrophy (MSA). These criteria were expected to provide useful alternatives to the second consensus statement. We examined trends in these diagnostic criteria. Methods We used patient data registered with the Hokkaido Rare Disease Consortium for Multiple System Atrophy, which has been recruiting patients with MSA through medical facilities in Hokkaido since November 2014. Patients were evaluated according to the MDS criteria based on neurological examinations and imaging findings at three separate times: the first evaluation, the time of enrollment (diagnosis), and the most recent evaluation (final evaluation). Results The MDS criteria were examined in 68 of 244 patients enrolled between November 2014 and July 2022. At the initial evaluation, the classifications were as follows: clinically established (n=27; 39.7%); clinically probable (n=13; 19.1%); possible prodromal (n=12; 17.6%); and negative (did not meet criteria (n=16; 23.5%). At the time of diagnosis, the classifications were as follows: clinically established (n=45; 66.2%); clinically probable (n=12; 17.6%); possible prodromal (n=4; 5.9%); and negative (n=7; 10.3%). At the final evaluation, the classifications were as follows: clinically established (n=52; 76.5%); clinically probable (n=9; 13.2%); possible prodromal (n=2; 2.9%); and negative (n=5; 7.4%). Conclusions We were able to clarify the changes in the criteria values and transition of patients due to the clarification of imaging and supportive findings in the MDS criteria.

4.
Clin Neurol Neurosurg ; 237: 108147, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38325040

RESUMO

OBJECTIVE: The unified multiple system atrophy rating scale (UMSARS) was used to evaluate various symptoms of multiple system atrophy (MSA). And UMSARS part 1 was originally developed for use in interviews, but the need for telemedicine is increasing in COVID-19 pandemic. The purpose of this study is to evaluate the reliability of the UMSARS part 1 telephone survey. METHODS: Thirty-two MSA patients took the UMSARS part 1 face-to-face, followed by two more telephone evaluations. Intraclass correlation coefficients (ICC) and Cronbach's alpha (α) coefficients were calculated, and the inter-rater reliability was determined. At the same time, we asked about the problems in COVID-19 pandemic. RESULTS: The study participants included 15 men and 17 women with mean age of 67.1 years (SD, 8.3). For the total UMSARS part 1 score, the inter-rater ICC and Cronbach's α coefficient were 0.89 to 0.92, and 0.84 to 0.87, respectively. More than half of the items had a relatively high ICC. Cronbach's α coefficients were more than 0.7 for all items. Changes that occurred in COVID-19 pandemic included reduced outings and lack of rehabilitation in about half of the cases. CONCLUSION: The UMSARS part 1 has high inter-rater reliability and internal consistency. Evaluation of subjective symptoms showed that some variability could occur. In addition, there was concern about the influence of lack of rehabilitation due to COVID-19 pandemic.


Assuntos
COVID-19 , Atrofia de Múltiplos Sistemas , Masculino , Humanos , Feminino , Idoso , Atrofia de Múltiplos Sistemas/diagnóstico , Atrofia de Múltiplos Sistemas/epidemiologia , Reprodutibilidade dos Testes , Pandemias , Índice de Gravidade de Doença
5.
J Hum Genet ; 69(1): 27-31, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37848721

RESUMO

In Japan, approximately 30% of spinocerebellar degeneration (SCD) is hereditary, and more than 90% of hereditary SCD is autosomal dominant SCD (AD-SCD). We have previously reported the types of AD-SCD in Hokkaido, twice. In this study, we investigated the status of AD-SCD mainly due to repeat expansions, covering the period since the last report. We performed genetic analysis for 312 patients with a clinical diagnosis of SCD, except for multiple system atrophy at medical institutions in Hokkaido between January 2007 and December 2020. The median age at the time of analysis was 58 (1-86) years. Pathogenic variants causing AD-SCD due to repeat expansion were found in 61.5% (192 cases). Spinocerebellar ataxia (SCA) 6 was the most common type in 25.3% (79 cases), followed by Machado-Joseph disease (MJD)/SCA3 in 13.8% (43), SCA1 in 6.4% (20), SCA2 in 5.1% (16), SCA31 in 4.8% (15), dentatorubral-pallidoluysian atrophy in 4.8% (15), SCA7 in 0.6% (2), and SCA8 in 0.6% (2). SCA17, 27B, 36, and 37 were not found. Compared to previous reports, this study found a higher prevalence of SCA6 and a lower prevalence of MJD/SCA3. An increasing number of cases identified by genetic testing, including cases with no apparent family history, accurately revealed the distribution of disease types in Hokkaido.


Assuntos
Ataxias Espinocerebelares , Degenerações Espinocerebelares , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Japão/epidemiologia , Prevalência , Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/genética , Degenerações Espinocerebelares/epidemiologia , Degenerações Espinocerebelares/genética , Testes Genéticos
6.
J Neurol Sci ; 454: 120849, 2023 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-37907039

RESUMO

BACKGROUND: Spinocerebellar ataxia (SCA) 27B, first reported in late 2022, is caused by the abnormal expansion of GAA repeats in the first intron of the FGF14 gene, which encodes the fibroblast growth factor 14. CASE PRESENTATION: We present two late-onset cases, each manifesting mild cerebellar ataxia accompanied by omnidirectional downbeat nystagmus, which was enhanced in a suspended head position. None of the patients exhibited impaired head impulse or caloric tests. Repeat-primed PCR and targeted long-read nanopore sequence analysis of the FGF14 GAA repeat site identified more than 250 repeats, leading to the diagnosis of SCA27B. DISCUSSION: Downbeat nystagmus is reported to be associated with disturbances in the suppression of the vestibulo-ocular reflex (VOR). Our patients with SCA27B demonstrated downbeat nystagmus, likely due to a disruption of the VOR at the level of the cerebellar cortex, a potentially characteristic clinical feature of SCA27B. We have included video footages of eye movements recorded using Frenzel goggles for these cases. CONCLUSIONS: Omnidirectional downbeat nystagmus may be a distinctive clinical feature of SCA27B.


Assuntos
Nistagmo Patológico , Ataxias Espinocerebelares , Humanos , Nistagmo Patológico/genética , Nistagmo Patológico/complicações , Movimentos Oculares , Reflexo Vestíbulo-Ocular , Cerebelo , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/genética
7.
BMC Neurol ; 23(1): 358, 2023 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-37798685

RESUMO

BACKGROUND: The diagnosis of Parkinson's disease (PD) and evaluation of its symptoms require in-person clinical examination. Remote evaluation of PD symptoms is desirable, especially during a pandemic such as the coronavirus disease 2019 pandemic. One potential method to remotely evaluate PD motor impairments is video-based analysis. In this study, we aimed to assess the feasibility of predicting the Unified Parkinson's Disease Rating Scale (UPDRS) score from gait videos using a convolutional neural network (CNN) model. METHODS: We retrospectively obtained 737 consecutive gait videos of 74 patients with PD and their corresponding neurologist-rated UPDRS scores. We utilized a CNN model for predicting the total UPDRS part III score and four subscores of axial symptoms (items 27, 28, 29, and 30), bradykinesia (items 23, 24, 25, 26, and 31), rigidity (item 22) and tremor (items 20 and 21). We trained the model on 80% of the gait videos and used 10% of the videos as a validation dataset. We evaluated the predictive performance of the trained model by comparing the model-predicted score with the neurologist-rated score for the remaining 10% of videos (test dataset). We calculated the coefficient of determination (R2) between those scores to evaluate the model's goodness of fit. RESULTS: In the test dataset, the R2 values between the model-predicted and neurologist-rated values for the total UPDRS part III score and subscores of axial symptoms, bradykinesia, rigidity, and tremor were 0.59, 0.77, 0.56, 0.46, and 0.0, respectively. The performance was relatively low for videos from patients with severe symptoms. CONCLUSIONS: Despite the low predictive performance of the model for the total UPDRS part III score, it demonstrated relatively high performance in predicting subscores of axial symptoms. The model approximately predicted the total UPDRS part III scores of patients with moderate symptoms, but the performance was low for patients with severe symptoms owing to limited data. A larger dataset is needed to improve the model's performance in clinical settings.


Assuntos
COVID-19 , Doença de Parkinson , Humanos , Tremor/diagnóstico , Estudos Retrospectivos , Hipocinesia , Doença de Parkinson/diagnóstico , Exame Neurológico/métodos , Testes de Estado Mental e Demência , Marcha
8.
Front Genet ; 14: 1234804, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37712068

RESUMO

Classical-like Ehlers-Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in TNXB. Thus far, 50 patients from 43 families with biallelic TNXB variants have been identified. Accurate detection of TNXB variants is challenging because of the presence of the pseudogene TNXA, which can undergo non-allelic homologous recombination. Therefore, we designed a genetic screening system that is performed using similar operations to other next-generation sequencing (NGS) panel analyses and can be applied to accurately detect TNXB variants and the recombination of TNXA-derived sequences into TNXB. Using this system, we identified biallelic TNXB variants in nine unrelated clEDS patients. TNXA-derived variations were found in >75% of the current cohort, comparable to previous reports. The current cohort generally exhibited similar clinical features to patients in previous reports, but had a higher frequency of gastrointestinal complications (e.g., perforation, diverticulitis, gastrointestinal bleeding, intestinal obstruction, rectal/anal prolapse, and gallstones). This report is the first to apply an NGS-based screening for TNXB variants and represents the third largest cohort of clEDS, highlighting the importance of increasing awareness of the risk of gastrointestinal complications.

9.
Intern Med ; 2023 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-37743510

RESUMO

A 74-year-old man experienced diplopia, generalized muscle weakness, and acute respiratory failure. He was diagnosed with Lambert-Eaton myasthenic syndrome (LEMS) and treated with immunotherapy, but no improvement was observed, and additional symptoms, including central apnea and hallucinations, appeared. Subsequent serum and cerebrospinal fluid (CSF) analyses confirmed the presence of GABAB receptor antibodies, indicating the coexistence of autoimmune encephalitis. Although there were no findings of malignancy, it is highly likely that occult small-cell lung carcinoma was present. When atypical symptoms occur in patients with LEMS, it is important to consider the possibility of concomitant autoimmune encephalitis.

10.
Magn Reson Imaging ; 103: 192-197, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37558171

RESUMO

PURPOSE: To develop a method for predicting amyloid positron emission tomography (PET) positivity based on multiple regression analysis of quantitative susceptibility mapping (QSM). MATERIALS AND METHODS: This prospective study included 39 patients with suspected dementia from four centers. QSM images were obtained through a 3-T, three-dimensional radiofrequency-spoiled gradient-echo sequence with multiple echoes. The cortical standard uptake value ratio (SUVR) was obtained using amyloid PET with 18F-flutemetamol, and susceptibility in the brain regions was obtained using QSM. A multiple regression model to predict cortical SUVR was constructed based on susceptibilities in multiple brain regions, with the constraint that cortical SUVR and susceptibility were positively correlated. The discrimination performance of the Aß-positive and Aß-negative cohorts was evaluated based on the predicted SUVR using the area under the receiver operating characteristic curve (AUC) and Mann-Whitney U test. RESULTS: The correlation coefficients between true and predicted SUVR were increased by incorporating the constraint, and the AUC to discriminate between the Aß-positive and Aß-negative cohorts reached to 0.79 (p < 0.01). CONCLUSION: These preliminary results suggest that a QSM-based multiple regression model can predict amyloid PET positivity with fair accuracy.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Humanos , Doença de Alzheimer/diagnóstico por imagem , Estudos Prospectivos , Tomografia por Emissão de Pósitrons/métodos , Amiloide/metabolismo , Encéfalo/diagnóstico por imagem , Encéfalo/metabolismo , Análise de Regressão , Peptídeos beta-Amiloides/metabolismo
11.
medRxiv ; 2023 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-37425910

RESUMO

To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted a genome-wide association study (GWAS) in a Japanese MSA case/control series followed by replication studies in Japanese, Korean, Chinese, European and North American samples. In the GWAS stage rs2303744 on chromosome 19 showed a suggestive association ( P = 6.5 × 10 -7 ) that was replicated in additional Japanese samples ( P = 2.9 × 10 -6 . OR = 1.58; 95% confidence interval, 1.30 to 1.91), and then confirmed as highly significant in a meta-analysis of East Asian population data ( P = 5.0 × 10 -15 . Odds ratio= 1.49; 95% CI 1.35 to 1.72). The association of rs2303744 with MSA remained significant in combined European/North American samples ( P =0.023. Odds ratio=1.14; 95% CI 1.02 to 1.28) despite allele frequencies being quite different between these populations. rs2303744 leads to an amino acid substitution in PLA2G4C that encodes the cPLA2γ lysophospholipase/transacylase. The cPLA2γ-Ile143 isoform encoded by the MSA risk allele has significantly decreased transacylase activity compared with the alternate cPLA2γ-Val143 isoform that may perturb membrane phospholipids and α-synuclein biology.

13.
Brain Nerve ; 75(5): 498-502, 2023 May.
Artigo em Japonês | MEDLINE | ID: mdl-37194519

RESUMO

No disease-modifying therapy has been established for spinocerebellar degeneration and multiple system atrophy, and only symptomatic therapy is currently available. Taltirelin and protirelin are drugs covered by health insurance for cerebellar ataxia symptoms, and are expected to suppress the progression of symptoms. Muscle relaxants are used for spasticity associated with spinocerebellar degeneration, and vasopressors and therapeutic agents for dysuria are used for autonomic symptoms of multiple system atrophy. It is necessary to develop a new therapeutic agent with a different mechanism of action, aimed specifically at modifying the disease progression in patients with spinocerebellar degeneration and multiple system atrophy.


Assuntos
Ataxia Cerebelar , Atrofia de Múltiplos Sistemas , Ataxias Espinocerebelares , Degenerações Espinocerebelares , Humanos , Degenerações Espinocerebelares/tratamento farmacológico , Ataxia Cerebelar/diagnóstico
14.
EClinicalMedicine ; 59: 101920, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37256098

RESUMO

Background: Functionally impaired variants of COQ2, encoding an enzyme in biosynthesis of coenzyme Q10 (CoQ10), were found in familial multiple system atrophy (MSA) and V393A in COQ2 is associated with sporadic MSA. Furthermore, reduced levels of CoQ10 have been demonstrated in MSA patients. Methods: This study was a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. Patients with MSA were randomly assigned (1:1) to either ubiquinol (1500 mg/day) or placebo. The primary efficacy outcome was the change in the unified multiple system atrophy rating scale (UMSARS) part 2 at 48 weeks. Efficacy was assessed in all patients who completed at least one efficacy assessment (full analysis set). Safety analyses included patients who completed at least one dose of investigational drug. This trial is registered with UMIN-CTR (UMIN000031771), where the drug name of MSA-01 was used to designate ubiquinol. Findings: Between June 26, 2018, and May 27, 2019, 139 patients were enrolled and randomly assigned to the ubiquinol group (n = 69) or the placebo group (n = 70). A total of 131 patients were included in the full analysis set (63 in the ubiquinol group; 68 in the placebo group). This study met the primary efficacy outcome (least square mean difference in UMSARS part 2 score (-1.7 [95% CI, -3.2 to -0.2]; P = 0.023)). The ubiquinol group also showed better secondary efficacy outcomes (Barthel index, Scale for the Assessment and Rating of Ataxia, and time required to walk 10 m). Rates of adverse events potentially related to the investigational drug were comparable between ubiquinol (n = 15 [23.8%]) and placebo (n = 21 [30.9%]). Interpretation: High-dose ubiquinol was well-tolerated and led to a significantly smaller decline of UMSARS part 2 score compared with placebo. Funding: Japan Agency for Medical Research and Development.

15.
Rinsho Shinkeigaku ; 63(5): 291-297, 2023 May 27.
Artigo em Japonês | MEDLINE | ID: mdl-37100623

RESUMO

A man in his 50s presented with a 2-month history of paresthesia and hypoesthesia of the extremities and B symptoms including low-grade fever, weight loss, and night sweats. He also reported a 3-year history of skin discoloration in cold weather. Laboratory test results showed a high white blood cell count and elevated serum C-reactive protein and rheumatoid factor (RF) levels. Complement levels were low, and tests for cryoglobulin showed positive results. Computed tomography revealed generalized lymphadenopathy, and 18F-fluorodeoxyglucose-positron emission tomography showed increased uptake; therefore, we performed cervical lymph node and muscle biopsies. The patient was diagnosed with nodular marginal zone lymphoma and cryoglobulinemic vasculitis (CV) and received chemotherapy and steroid treatment with improvement in symptoms. CV is a rare immune complex small-vessel vasculitis. It is important to measure RF and complement levels and consider infections, collagen diseases, and hematological disorders in the differential diagnosis in patients with suspected vasculitis or CV.


Assuntos
Crioglobulinemia , Doenças do Sistema Nervoso Periférico , Vasculite , Masculino , Humanos , Vasculite/diagnóstico , Vasculite/etiologia , Crioglobulinemia/diagnóstico , Crioglobulinemia/etiologia , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/diagnóstico , Diagnóstico Diferencial , Febre
17.
Brain Nerve ; 75(2): 143-147, 2023 Feb.
Artigo em Japonês | MEDLINE | ID: mdl-36750212

RESUMO

The newly revised diagnostic criteria for multiple system atrophy (MSA) have reduced the criteria for diagnosing orthostatic hypotension compared to the conventional diagnostic criteria, but require tests such as MRI and residual urine measurement. Under the new diagnostic criteria, cases that were previously classified as possible MSA with low diagnostic accuracy may become clinically established with higher diagnostic accuracy. However, examination of the cohort treated in our establishment showed that there were cases in which the diagnostic criteria could not be applied when the symptoms and test items necessary for diagnosis were not confirmed. In clinical trials, clinically established or clinically probable MSA are targeted for interventional studies, and possible prodromal MSA are considered to be more important for observational studies. In the future, it will be necessary to confirm the diagnostic accuracy pathologically, accumulate evidence from various clinical tests that are listed as supportive biomarkers, and to develop more useful diagnostic criteria.


Assuntos
Atrofia de Múltiplos Sistemas , Humanos , Atrofia de Múltiplos Sistemas/diagnóstico , Diagnóstico Diferencial
18.
Magn Reson Med Sci ; 22(1): 87-94, 2023 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-35264494

RESUMO

PURPOSE: Studies on quantitative susceptibility mapping (QSM) have reported an increase in magnetic susceptibilities in patients with Alzheimer's disease (AD). Despite the pathological importance of the brain surface areas, they are sometimes excluded in QSM analysis. This study aimed to reveal the efficacy of QSM analysis with brain surface correction (BSC) and/or vein removal (VR) procedures. METHODS: Thirty-seven AD patients and 37 age- and sex-matched, cognitively normal (CN) subjects were included. A 3D-gradient echo sequence at 3T MRI was used to obtain QSM. QSM images were created with regularization enabled sophisticated harmonic artifact reduction for phase data (RESHARP) and constrained RESHARP with BSC and/or VR. We conducted ROI analysis between AD patients and CN subjects who did or did not undergo BSC and/or VR using a t-test, to compare the susceptibility values after gray matter weighting. RESULTS: The susceptibility values in RESHARP without BSC were significantly larger in AD patients than in CN subjects in one region (precentral gyrus, 8.1 ± 2.9 vs. 6.5 ± 2.1 ppb) without VR and one region with VR (precentral gyrus, 7.5 ± 2.8 vs. 5.9 ± 2.0 ppb). Three regions in RESHARP with BSC had significantly larger susceptibilities without VR (precentral gyrus, 7.1 ± 2.0 vs. 5.9 ± 2.0 ppb; superior medial frontal gyrus, 5.7 ± 2.6 vs. 4.2 ± 3.1 ppb; putamen, 47,8 ± 16.5 vs. 40.0 ± 15.9 ppb). In contrast, six regions showed significantly larger susceptibilities with VR in AD patients than in CN subjects (precentral gyrus, 6.4 ± 1.9 vs. 4.9 ± 2.7 ppb; superior medial frontal gyrus, 5.3 ± 2.7 vs. 3.7 ± 3.3 ppb; orbitofrontal cortex, -2.1 ± 2.7 vs. -3.6 ± 3.2 ppb; parahippocampal gyrus, 0.1 ± 3.6 vs. -1.7 ± 3.7 ppb; putamen, 45.0 ± 14.9 vs. 37.6 ± 14.6 ppb; inferior temporal gyrus, -3.4 ± 1.5 vs. -4.4 ± 1.5 ppb). CONCLUSION: RESHARP with BSC and VR showed more regions of increased susceptibility in AD patients than in CN subjects. This study highlights the efficacy of this method in facilitating the diagnosis of AD.


Assuntos
Doença de Alzheimer , Humanos , Doença de Alzheimer/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Substância Cinzenta , Mapeamento Encefálico/métodos , Imageamento por Ressonância Magnética/métodos
19.
Intern Med ; 62(11): 1599-1602, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-36261369

RESUMO

Objective Hereditary ATTR (ATTRv) amyloidosis was once an incurable disease; however, in recent years, disease-modifying therapies, such as tafamidis and patisiran, have become available. We herein report the medical care situation in an ATTRv amyloidosis non-endemic area of Japan. Methods We confirmed the information in the medical records of our department and analyzed the data retrospectively. Patients Patients with ATTRv amyloidosis who were treated in our department between 2010 and 2021 were included. Results A total of 15 ATTRv amyloidosis cases (8 men and 7 women) were treated in our department during the study period; 9 patients had a family history, and the transthyretin V30M (p.V50M) gene mutation was present in 66% of cases. The average age of the onset was 57 years old, with 73% of the initial symptoms being dysesthesia and 13% being autonomic dysfunction. Ten patients were treated with tafamidis and nine with patisiran. Although it took a long time to start treatment among our experienced cases, there were some cases in which treatment could be introduced relatively early. Conclusion ATTRv amyloidosis is treatable and should be included in the differential diagnosis of neuropathy so that it can be diagnosed early and introduced into treatment. In the near future, the presymptomatic diagnosis of ATTRv amyloidosis and genetic counseling will become more important.


Assuntos
Neuropatias Amiloides Familiares , Doenças do Sistema Nervoso Autônomo , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Neuropatias Amiloides Familiares/complicações , Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/epidemiologia , Estudos Retrospectivos , Pré-Albumina/genética , Japão/epidemiologia
20.
Rinsho Shinkeigaku ; 62(10): 773-780, 2022 Oct 22.
Artigo em Japonês | MEDLINE | ID: mdl-36184415

RESUMO

As therapies for hereditary neuromuscular diseases are developed, the need for presymptomatic genetic testing and genetic counseling for early treatment is expected to increase. In Japan, there is no uniformly recommended protocol for presymptomatic genetic testing. In order to provide basic data for the establishment of a presymptomatic genetic testing system, we surveyed medical genetics departments in Japan about their current status (response rate: 67.4%). The questionnaire survey revealed that approximately 60% of facilities had established their own procedures for presymptomatic genetic testing, but the approaches used varied from facility to facility. The interview survey enabled us to identify the essential factors for the establishment of a presymptomatic genetic testing system for each case, each facility, and at the overall level. In the future, there is a need to develop a standardized protocol to help establish a presymptomatic genetic testing system.


Assuntos
Testes Genéticos , Doenças Neuromusculares , Adulto , Humanos , Testes Genéticos/métodos , Aconselhamento Genético , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/genética , Doenças Neuromusculares/terapia , Inquéritos e Questionários , Japão
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