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1.
Neurology ; 95(2): e194-e205, 2020 07 14.
Artigo em Inglês | MEDLINE | ID: mdl-32527970

RESUMO

OBJECTIVE: To determine whether objective and quantitative assessment of dysarthria and dysphagia in spinocerebellar ataxia type 2 (SCA2), specifically at pre-ataxic and early disease phases, can act as sensitive disease markers. METHODS: Forty-six individuals (16 with pre-ataxic SCA2, 14 with early-stage ataxic SCA2, and 16 healthy controls) were recruited in Holguin, Cuba. All participants underwent a comprehensive battery of assessments including objective acoustic analysis, clinician-derived ratings of speech function and swallowing, and quality of life assessments of swallowing. RESULTS: Reduced speech agility manifest at the pre-ataxic stage was observed during diadochokinetic tasks, with the magnitude of speech deficit augmented in the early ataxic stage. Speech rate was slower in early-stage ataxic SCA2 compared with pre-ataxic SCA2 and healthy controls. Reduced speech agility and speech rate correlated with disease severity and time to ataxia onset, verifying that speech deficits occur prior to ataxia onset and increase in severity as the disease progresses. Whereas dysphagia was observed in both pre-ataxic and ataxic SCA2, it was not associated with swallowing-related quality of life, disease severity, or time to ataxia onset. CONCLUSIONS: Speech and swallowing deficits appear sensitive to disease progression in early-stage SCA2, with syllabic rate a viable marker. Findings provide insight into mechanisms of disease progression in early-stage SCA2, signaling an opportunity for stratifying early-stage SCA2 and identifying salient markers of disease onset as well as outcome measures in future early-stage therapeutic studies.


Assuntos
Transtornos de Deglutição/etiologia , Transtornos de Deglutição/fisiopatologia , Distúrbios da Fala/etiologia , Distúrbios da Fala/fisiopatologia , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/fisiopatologia , Adolescente , Adulto , Biomarcadores , Transtornos de Deglutição/psicologia , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Testes de Articulação da Fala , Distúrbios da Fala/psicologia , Ataxias Espinocerebelares/psicologia , Adulto Jovem
2.
Intern Med ; 59(14): 1749-1753, 2020 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-32238726

RESUMO

A 65-year-old woman with spinocerebellar ataxia presented with generalized seizures due to subcortical hemorrhaging. Magnetic resonance imaging (MRI) revealed obstruction of the superior sagittal sinus. Despite treatment, she became comatose. MRI newly revealed subdural fluid collection and descent of the brainstem. Her history indicated a recent fall, prompting additional studies, which revealed lumbar fracture and cerebrospinal fluid (CSF) leaks. We performed an epidural blood patch, and her consciousness was fully restored in one month. This is the first report of cerebral venous thrombosis with CSF leaks in the lumbar region due to a fall injury.


Assuntos
Acidentes por Quedas , Placa de Sangue Epidural/métodos , Vazamento de Líquido Cefalorraquidiano/etiologia , Vazamento de Líquido Cefalorraquidiano/terapia , Traumatismos da Coluna Vertebral/complicações , Ataxias Espinocerebelares/complicações , Trombose Venosa/etiologia , Trombose Venosa/terapia , Idoso , Feminino , Humanos , Resultado do Tratamento
5.
Int. arch. otorhinolaryngol. (Impr.) ; 24(1): 86-92, Jan.-Mar. 2020. tab
Artigo em Inglês | LILACS | ID: biblio-1090561

RESUMO

Abstract Introduction Spinocerebellar ataxia (SCA) is part of a genetic and clinical heteroge- neous group of neurodegenerative diseases characterized by progressive cerebellar ataxia. Objective To describe the results of audiological and electrophysiological hearing evaluations in patients with sporadic ataxia (SA). Methods A retrospective cross-sectional study was carried out with 11 patients submitted to the following procedures: anamnesis, otorhinolaryngological evaluation, tonal and vocal audiometry, acoustic immittance and brainstem auditory evoked potential (BAEP) tests. Results The patients presented with a prevalence of gait imbalance, of dysarthria, and of dysphagia; in the audiometric and BAEPs, four patients presented with alterations; in the acoustic immittance test, five patients presented with alterations, predominantly bilateral. Conclusion The most evident alterations in the audiological evaluation were the prevalence of the descending audiometric configuration between the frequencies of 2 and 4 kHz and the absence of the acoustic reflex between the frequencies of 3 and 4 kHz bilaterally. In the electrophysiological evaluation, the patients presented changes with a prevalence of increased I, III and V wave latencies and the interval in the interpeak I-III, I-V and III-V. In the present study, it was observed that auditory complaints did not have a significant prevalence in this type of ataxia, which does not occur in some types of autosomal recessive and dominant ataxia.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Audiometria de Tons Puros , Limiar Auditivo/fisiologia , Potenciais Evocados Auditivos do Tronco Encefálico , Ataxias Espinocerebelares/fisiopatologia , Testes de Impedância Acústica , Estudos Transversais , Estudos Retrospectivos , Ataxias Espinocerebelares/complicações , Transtornos da Audição/diagnóstico , Transtornos da Audição/etiologia
6.
J Clin Neurosci ; 71: 150-152, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31540857

RESUMO

Spinocerebellar ataxia type 10 (SCA10) is a rare dominantly inherited neurodegenerative disorder characterized by cerebellar ataxia, dysarthria, ocular dysmetria, and seizures in some populations. Fatigue has been described in SCA1, SCA3, but has not been objectively investigated in SCA10. Our aim is to investigate the presence and related causal factors of fatigue among SCA10 patients. Twenty-eight patients with SCA10 and matched healthy controls were included and assessed using the Scale for the Assessment and Rating of Ataxia (SARA), Modified Fatigue Impact Scale (MFIS), Beck Inventory Depression (BDI) and Epworth Sleepiness Scale (ESS). Fatigue was evidenced in 32% of SCA10 versus 3.6% for the control group (p = 0.005). The following independent variables were not significant predictors for MFIS-BR: duration of disease, SARA and BSS. Age at onset of disease (r = -0.307, p = 0.021) and EDS (r = -0.347, p = 0.014) were mild to moderate predictors of fatigue. Similar to other SCAs, fatigue is common in SCA10 patients, suggesting a possible role of a common topographic degenerative pattern in its pathophysiology.


Assuntos
Fadiga/diagnóstico , Ataxias Espinocerebelares/diagnóstico , Adulto , Idade de Início , Expansão das Repetições de DNA , Fadiga/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Ataxias Espinocerebelares/complicações
7.
Cerebellum ; 19(1): 161-163, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31721007

RESUMO

Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and developmental delay at 6 months of age. Genetic testing confirmed a c.812C>T p.(Thr271Ile) mutation within the SPTBN2 gene. Seven previous cases of infantile onset SCA-5 are reported in the literature, four of which had a CP presentation. Early onset of SCA-5 presents with ataxic CP and is a rare cause of cerebral palsy.


Assuntos
Ataxia/complicações , Ataxia/diagnóstico por imagem , Paralisia Cerebral/complicações , Paralisia Cerebral/diagnóstico por imagem , Doenças Genéticas Inatas/complicações , Doenças Genéticas Inatas/diagnóstico por imagem , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxia/genética , Paralisia Cerebral/genética , Doenças Genéticas Inatas/genética , Humanos , Lactente , Masculino , Ataxias Espinocerebelares/genética
9.
Artigo em Inglês | MEDLINE | ID: mdl-31565537

RESUMO

Background: Self-injurious behaviour has historically been associated with borderline personality disorder. Nevertheless, over recent years, it has been reported in numerous neurological syndromes, especially hyperkinesias. Case report: Two cases of SCA17 manifested self-injurious behaviour, namely repetitive scratching of the skin resulting in severe excoriations. In one of them, the abnormal behaviour was associated with the inability to resist the impulse to commit the act along with relief following the damage. Discussion: This is the first report describing self-injurious behaviour in SCA17, but the mechanisms underlying it are still not clear. Further studies are needed to clarify the pathophysiology of such manifestation in hyperkinetic syndromes.


Assuntos
Transtornos Disruptivos, de Controle do Impulso e da Conduta/etiologia , Comportamento Autodestrutivo/etiologia , Ataxias Espinocerebelares/complicações , Idoso , Transtornos Disruptivos, de Controle do Impulso e da Conduta/fisiopatologia , Feminino , Humanos , Pessoa de Meia-Idade , Comportamento Autodestrutivo/fisiopatologia
10.
Cerebellum ; 18(5): 972-975, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31410782

RESUMO

Spinocerebellar Ataxia 23 (SCAR23) is a newly described condition caused by mutations in TDP2 gene. To date, only four patients from two families have been reported, all carrying the same homozygous mutation. We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. We further show the clinical presentation which is associated with the neuroradiological evidence of progressive cerebellar atrophy, giving the evidence that SCAR23 can be classified as a degenerative condition.


Assuntos
Proteínas de Ligação a DNA/genética , Epilepsia Resistente a Medicamentos/genética , Deficiência Intelectual/genética , Mutação/genética , Diester Fosfórico Hidrolases/genética , Ataxias Espinocerebelares/genética , Adolescente , Epilepsia Resistente a Medicamentos/complicações , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Feminino , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico por imagem , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/diagnóstico por imagem , Sequenciamento Completo do Exoma/métodos
11.
J Pediatr Ophthalmol Strabismus ; 56(4): 266-270, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31322719

RESUMO

PURPOSE: To evaluate the surgical responses and outcomes of bilateral medial rectus (BMR) recession in esotropic patients with spinocerebellar ataxia (SCA) and to compare the results with normal controls. METHODS: The medical records of patients with SCA who underwent strabismus surgery for esotropia between 2006 and 2015 were reviewed retrospectively. Five esotropic patients with SCA (SCA group) and 10 esotropic patients without neurologic disorders (control group) who underwent BMR recession were included. Success rates, surgical responses, and the amount of preoperative and postoperative distance-near disparity were evaluated and compared between the groups. RESULTS: The mean preoperative esodeviation was not different between the SCA and control groups (20 vs 17.3 prism diopters [PD], P = .214). However, patients with SCA showed significant undercorrection compared with controls 1 week postoperatively (4.8 vs 1.0 PD, P = .048) and at the final follow-up (6.8 vs 1.8 PD, P = .032). The surgical success rates for the SCA and control groups were 40% and 80%, respectively (P = .095). Patients with SCA demonstrated a significantly reduced surgical response compared with controls (3.15 vs 3.87 PD/mm, P = .004), and a greater amount of postoperative distance-near disparity than controls (8.0 vs 1.1 PD, P = .001). CONCLUSIONS: A significant undercorrection was observed following BMR recession in esotropic patients with SCA. Accordingly, the authors recommend a slight overcorrection of 5 to 10 PD or adding a slanting procedure when planning strabismus surgery for this distinct group of patients. [J Pediatr Ophthalmol Strabismus. 2019;56(4):266-270.].


Assuntos
Esotropia/cirurgia , Movimentos Oculares/fisiologia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Ataxias Espinocerebelares/complicações , Visão Binocular/fisiologia , Adulto , Idoso , Esotropia/etiologia , Esotropia/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Músculos Oculomotores/fisiopatologia , Período Pós-Operatório , Estudos Retrospectivos , Resultado do Tratamento
13.
Intern Med ; 58(18): 2711-2714, 2019 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-31178481

RESUMO

We herein report the successful management of a condition mimicking acquired laryngomalacia using conservative methods in an elderly man with a progressive neurological disorder. The patient developed stridor and was transferred to the intensive-care unit. Flexible laryngoscopy revealed a collapsed epiglottis during inspiration, as seen in acquired laryngomalacia, with mucinous material firmly adhered to the epiglottis. The stridor resolved after the removal of this material. Pathology revealed keratinized material, suggesting a collection of sputum or epithelial tissue. Thus, flexible laryngoscopy can differentiate the cause of airway obstruction and avoid unnecessary endotracheal intubation in patients with neurological disorders.


Assuntos
Transtornos de Deglutição/reabilitação , Epiglote , Corpos Estranhos/diagnóstico , Laringomalácia/diagnóstico , Ataxias Espinocerebelares/reabilitação , Idoso , Obstrução das Vias Respiratórias/etiologia , Transtornos de Deglutição/etiologia , Diagnóstico Diferencial , Corpos Estranhos/complicações , Humanos , Unidades de Terapia Intensiva , Laringoscopia , Masculino , Sons Respiratórios/etiologia , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/diagnóstico por imagem
14.
Mov Disord ; 34(8): 1220-1227, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31211461

RESUMO

BACKGROUND: Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. OBJECTIVE: To quantify the impact of disease progression measured by the Scale for the Assessment and Rating of Ataxia on survival, and to identify different profiles of disease progression and survival. METHODS: Four hundred sixty-two spinocerebellar ataxia patients from the EUROSCA prospective cohort study, suffering from spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, and spinocerebellar ataxia type 6, and who had at least two measurements of Scale for the Assessment and Rating of Ataxia score, were analyzed. Outcomes were change over time in Scale for the Assessment and Rating of Ataxia score and time to death. Joint model was used to analyze disease progression and survival. RESULTS: Disease progression was the strongest predictor for death in all genotypes: An increase of 1 standard deviation in total Scale for the Assessment and Rating of Ataxia score increased the risk of death by 1.28 times (95% confidence interval: 1.18-1.38) for patients with spinocerebellar ataxia type 1; 1.19 times (1.12-1.26) for spinocerebellar ataxia type 2; 1.30 times (1.19-1.42) for spinocerebellar ataxia type 3; and 1.26 times (1.11-1.43) for spinocerebellar ataxia type 6. Three subgroups of disease progression and survival were identified for patients with spinocerebellar ataxia type 1: "severe" (n = 13; 12%), "intermediate" (n = 31; 29%), and "moderate" (n = 62; 58%). Patients in the severe group were more severely affected at baseline with higher Scale for the Assessment and Rating of Ataxia scores and frequency of nonataxia signs compared to those in the other groups. CONCLUSION: Rapid ataxia progression is associated with poor survival of the most common spinocerebellar ataxia. Theses current results have implications for the design of future interventional studies of spinocerebellar ataxia. © 2019 International Parkinson and Movement Disorder Society.


Assuntos
Ataxias Espinocerebelares/mortalidade , Ataxias Espinocerebelares/fisiopatologia , Adulto , Idoso , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/fisiopatologia , Estudos de Coortes , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/fisiopatologia , Progressão da Doença , Distonia/etiologia , Distonia/fisiopatologia , Feminino , Humanos , Estudos Longitudinais , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/mortalidade , Doença de Machado-Joseph/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Ataxias Espinocerebelares/complicações , Taxa de Sobrevida , Fatores de Tempo
16.
Parkinsonism Relat Disord ; 65: 91-96, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31126790

RESUMO

INTRODUCTION: Spinocerebellar ataxia 48 has recently been described as an adult onset ataxia associated with a cerebellar cognitive affective syndrome, caused by a heterozygous mutation in the STUB1 gene. METHODS: We characterized the clinical and neuroimaging phenotype of eight patients from two autosomal dominant ataxia multigenerational Italian families, in whom we conducted whole exome sequencing, targeted multigene sequencing, and Sanger sequencing studies. RESULTS: We describe a complex syndrome characterized by ataxia and cognitive-psychiatric disorder in all cases, variably associated with chorea, parkinsonism, dystonia, urinary symptoms, and epilepsy. MRI showed a significant cerebellar atrophy, coupled to a T2-weighted hyperintensity affecting the dentate nuclei and extending to the middle cerebellar peduncles, whereas FDG-PET studies revealed glucose hypometabolism in cerebellum, striatum, and cerebral cortex. We identified two different novel STUB1 mutations segregating in the two families. One of the two mutations, p.(Gly33Ser), occurs in the TRP domain, whereas p.(Pro228Ser) is located in the ubiquitin ligase region. DISCUSSION: We emphasize the similarity of the described clinical picture with that of SCAR16, an autosomal recessive ataxia caused by biallelic mutations in the same gene, and of spinocerebellar ataxia type 17, which is considered the main Huntington's disease-like syndrome. The pathogenesis of the disease and the relationship between SCA48 and SCAR16 remain to be clarified.


Assuntos
Doenças dos Gânglios da Base/diagnóstico por imagem , Transtornos Cognitivos/diagnóstico por imagem , Transtornos Mentais/diagnóstico por imagem , Ataxias Espinocerebelares/diagnóstico por imagem , Adulto , Idoso , Doenças dos Gânglios da Base/complicações , Doenças dos Gânglios da Base/genética , Transtornos Cognitivos/complicações , Transtornos Cognitivos/genética , Feminino , Humanos , Itália , Imagem por Ressonância Magnética/métodos , Masculino , Transtornos Mentais/complicações , Transtornos Mentais/genética , Pessoa de Meia-Idade , Linhagem , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/genética , Ubiquitina-Proteína Ligases/genética
17.
J Med Case Rep ; 13(1): 112, 2019 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-31030668

RESUMO

BACKGROUND: Postoperative delirium is a relatively uncommon condition in middle aged patients, but very widespread in patients with psychiatric and neurological diseases undergoing general anesthesia. Few studies are currently available in the literature on the perioperative anesthesiological management of patients suffering from spinocerebellar ataxia. CASE PRESENTATION: A 58-year-old Caucasian woman affected by spinocerebellar ataxia type 2 underwent total hip arthroplasty for advanced osteoarthritis. One month later, debridement, antibiotics, and implant retention was performed for periprosthetic hip infection. Both times she underwent general anesthesia and developed an early postoperative delirium treated successfully with chlorpromazine. CONCLUSIONS: This case report highlights the need to correctly manage patients at high risk of developing postoperative delirium, especially if suffering from degenerative neurological diseases. On the other hand, further studies will be needed in order to evaluate if spinocerebellar ataxia is an independent risk factor for the development of this acute and transient pathological condition.


Assuntos
Anestesia Geral/efeitos adversos , Artroplastia de Quadril/efeitos adversos , Delírio do Despertar/etiologia , Ataxias Espinocerebelares/complicações , Feminino , Humanos , Pessoa de Meia-Idade , Reoperação/efeitos adversos , Ataxias Espinocerebelares/diagnóstico
18.
J Neurol ; 266(5): 1260-1266, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30840144

RESUMO

We aimed to provide proof-of-principle evidence that intensive home-based speech treatment can improve dysarthria in complex multisystemic degenerative ataxias, exemplified by autosomal recessive spastic ataxia Charlevoix-Saguenay (ARSACS). Feasibility and piloting efficacy of speech training specifically tailored to cerebellar dysarthria was examined through a 4-week program in seven patients with rater-blinded assessment of intelligibility (primary outcome) and naturalness and acoustic measures of speech (secondary outcomes) performed 4 weeks before, immediately prior to, and directly after training (intraindividual control design). Speech intelligibility and naturalness improved post treatment. This provides piloting evidence that ataxia-tailored speech treatment might be effective in degenerative cerebellar disease.


Assuntos
Disartria/etiologia , Disartria/reabilitação , Espasticidade Muscular/complicações , Fonoterapia/métodos , Ataxias Espinocerebelares/congênito , Retroalimentação Sensorial/fisiologia , Feminino , Humanos , Masculino , Avaliação de Resultados em Cuidados de Saúde , Projetos Piloto , Ataxias Espinocerebelares/complicações , Estatísticas não Paramétricas
19.
Cerebellum ; 18(3): 519-526, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30830673

RESUMO

Cerebellar degenerative pathology has been identified in tremor patients; however, how the degenerative pathology could contribute to tremor remains unclear. If the cerebellar degenerative pathology can directly drive tremor, one would hypothesize that tremor is likely to occur in the diseases of cerebellar ataxia and follows the disease progression in such disorders. To further test this hypothesis, we studied the occurrence of tremor in different disease stages of classical cerebellar degenerative disorders: spinocerebellar ataxias (SCAs). We further separately analyzed postural tremor and rest tremor, two forms of tremor that both involve the cerebellum. We also explored tremor in different subtypes of SCAs. We found that 18.1% of SCA patients have tremor. Interestingly, SCA patients with tremor have worse ataxia than those without tremor. When stratifying patients into mild, moderate, and severe disease stages according to the severity of ataxia, moderate and severe SCA patients more commonly have tremor than those with mild ataxia, the effect most prominently observed in postural tremor of SCA3 and SCA6 patients. Finally, tremor can independently contribute to worse functional status in SCA2 patients, even after adjusting for ataxia severity. Tremor is more likely to occur in the severe stage of cerebellar degeneration when compared to mild stages. Our results partially support the cerebellar degenerative model of tremor.


Assuntos
Cerebelo/patologia , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/patologia , Tremor/etiologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tremor/epidemiologia
20.
J Neurol Sci ; 400: 39-41, 2019 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-30901567

RESUMO

BACKGROUND AND PURPOSE: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) diagnosis is based on the presence of three main clinical features: 1) ataxia, 2) pyramidal involvement, and 3) axonal neuropathy. This study aimed to explore, among a cohort of adults with ARSACS, the prevalence of other signs and symptoms than those commonly describe in this disease and compare their prevalence between younger (<40 years) and older (≥40 years) participants. METHODS: A clinical interview based on a standardized questionnaire was conducted. It included the following items: memory and concentration problems, hearing impairment, epilepsy, spasms, choreathetosis, neuropathic pain, cramps and fecal incontinence. RESULTS: A total of 43 participants were interviewed, with a mean age of 38.9 years and 51.2% were men. Spasms (55.8%), cramps (53.5%), and concentration problems (39.5%) were the most frequent manifestations. Except for choreathetosis, which was present in only one participant, all other signs and symptoms were present in 9.3% to 29.3% of participants. CONCLUSIONS: People with ARSACS may experience many other clinical manifestations than the most commonly described. This study is a preliminary step toward the development of a comprehensive evidence-based clinical care guideline for this population.


Assuntos
Espasticidade Muscular/diagnóstico , Espasticidade Muscular/fisiopatologia , Ataxias Espinocerebelares/congênito , Adolescente , Adulto , Incontinência Fecal/diagnóstico , Incontinência Fecal/etiologia , Incontinência Fecal/fisiopatologia , Feminino , Transtornos Neurológicos da Marcha/diagnóstico , Transtornos Neurológicos da Marcha/etiologia , Transtornos Neurológicos da Marcha/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Espasticidade Muscular/complicações , Espasmo/diagnóstico por imagem , Espasmo/etiologia , Espasmo/fisiopatologia , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/fisiopatologia , Adulto Jovem
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