RESUMEN
Myotonic dystrophy type 1 is an autosomal dominant, inherited multiorgan disorder that can affect people of all ages. It is the most prevalent inherited muscular disease in adults. Late diagnosis points to limited knowledge among the medical community that symptoms other than typical muscular symptoms can dominate. The condition often worsens with each generation and some families are severely affected. Significantly delayed diagnosis means a risk of more serious development of the disorder and inadequate symptomatic treatment. We hope that this clinical review article may lead to more rapid diagnosis and better follow-up of this patient group.
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Distrofia Miotónica , Distrofia Miotónica/diagnóstico , Distrofia Miotónica/complicaciones , Humanos , Diagnóstico Tardío , AdultoRESUMEN
BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a descriptive term that encompasses a group of congenital, aetiologically heterogeneous conditions characterised by multiple joint contractions. CASE PRESENTATION: As a teenager, the index patient was told she had AMC, as did one of her parents. Subsequently, she wondered how her condition might evolve over time, since her affected parent had become wheelchair- dependent. Her history and clinical findings led to genetic testing which identified a causative variant in the COL6A2 gene, revealing an underlying diagnosis of Bethlem myopathy. INTERPRETATION: Adults who have rare monogenic disorders may lack an aetiological diagnosis because of limited access to genetic laboratory testing in the past. Advances in genetic laboratory diagnostics during the last 10−15 years have made testing more widely available. As exemplified by this case, molecular genetic diagnosis may provide benefits such as information concerning prognosis and treatment options.
Asunto(s)
Artrogriposis , Contractura , Distrofias Musculares , Adolescente , Adulto , Artrogriposis/diagnóstico , Artrogriposis/genética , Femenino , Pruebas Genéticas , Humanos , Debilidad Muscular/diagnóstico , Debilidad Muscular/genéticaAsunto(s)
Ejercicio Físico/fisiología , Enfermedades Neuromusculares , Adulto , Contractura/etiología , Creatina Quinasa/sangre , Terapia por Ejercicio , Fatiga/etiología , Cardiopatías/etiología , Humanos , Enfermedades Pulmonares/etiología , Miopatías Mitocondriales/complicaciones , Miopatías Mitocondriales/terapia , Debilidad Muscular/etiología , Distrofias Musculares/complicaciones , Distrofias Musculares/terapia , Miopatías Estructurales Congénitas/complicaciones , Miopatías Estructurales Congénitas/terapia , Trastornos Miotónicos/complicaciones , Trastornos Miotónicos/terapia , Enfermedades Neuromusculares/complicaciones , Enfermedades Neuromusculares/genética , Enfermedades Neuromusculares/terapia , Dolor/etiología , Modalidades de Fisioterapia , Entrenamiento de FuerzaRESUMEN
PURPOSE: To translate ABILHAND-NMD and ACTIVLIM into Norwegian and assess their psychometric properties in adults with Myotonic Dystrophy type 1(DM1). METHODS: ABILHAND-NMD and ACTIVLIM were translated into Norwegian through a standardized translation process. Psychometric properties of the translated questionnaires were tested. Intraclass correlation coefficient (ICC3.1) was used to assess test-retest reliability and Cronbach's α for internal consistency. The validity of the questionnaires was also assessed. RESULTS: A total of 39 adults with DM1 were included. We found excellent test-retest reliability on ABILHAND-NMD (ICC 0.91) and ACTIVLIM (ICC 0.93). We found a good internal consistency of ABILHAND-NMD with Cronbach's α (95%CI) of 0.80 (0.69-0.88) and ACTIVLIM with Cronbach's α (95%CI) of 0.88 (0.82-0.93) An expert group of healthcare professionals and a pilot group reported good face and content validity. We found a high correlation between ABILHAND-NMD and ACTIVLIM (r = 0.75), p < 0.001 implying good convergent validity. ABILHAND-NMD and ACTIVLIM showed no floor effect, but a potential for ceiling effect. CONCLUSION: The Norwegian versions of ABILHAND-NMD and ACTIVLIM are reliable and valid patient reported outcome measures for Myotonic Dystrophy type 1. The questionnaires are easy to administer as they take a short time to answer, and the participants reported no problems understanding the questions.
Myotonic Dystrophy type 1 cause myopathy and altered muscle function.Impaired arm- and hand function increases patients' need for assistance and reduces independence.The use of patient reported outcome measures (PROMs) to uncover impairments and activity limitations is important in clinical practice and research.The Norwegian versions of ABILHAND-NMD and ACTIVLIM are reliable and valid measures of manual ability and activity limitations for adults with Myotonic Dystrophy type 1.
RESUMEN
BACKGROUND: Huntington's disease is a complex neurodegenerative hereditary disease with symptoms in all domains of a person's functioning. It begins after a healthy start in life and leads through the relentless progression over many years to complete care dependency and finally death. To date, the disease is incurable. The long progressive complex nature of the disease demands multiple disciplines for treatment and care of patient and family. These health care providers need inter- and multidisciplinary collaboration to persevere and be efficacious in this devastating disease trajectory. DISCUSSION: The position paper outlines current knowledge and experience alongside the experience and consensus of a recognised group of HD multidisciplinary experts. Additionally the patient's voice is clear and calls for health care providers with a holistic view on patient and family. Building long-term trust is a cornerstone of the network around the patient. This paper describes a managed care network comprising all the needed professionals and services. In the health care system, the role of a central coordinator or case manager is of key importance but lacks an appropriate guideline. Other disciplines currently without guidelines are general practitioners, nurses, psychologists, and social workers. Guidelines for neurologists, psychiatrists, geneticists, occupational therapists, speech and language therapists, physiotherapists, dieticians, and dentists are being discussed. Apart from all these profession-specific guidelines, distinctive inter- and multidisciplinary collaboration requirements must be met. CONCLUSIONS AND RECOMMENDATIONS: The complex nature of Huntington's disease demands multidisciplinary treatment and care endorsed by international regulations and the lay association. Available guidelines as reviewed in this paper should be used, made available by a central body, and updated every 3-5 years. Time needs to be invested in developing missing guidelines but the lack of this 'proof' should not prevent the 'doing' of good care.
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Enfermedad de Huntington , Humanos , Enfermedad de Huntington/terapia , Atención a la Salud , Consenso , Personal de SaludRESUMEN
BACKGROUND: Primary periodic paralysis (PPP) are rare inherited neuromuscular disorders including Hypokalemic periodic paralysis (HypoPP), Hyperkalemic periodic paralysis (HyperPP) and Andersen-Tawil syndrome (ATS) characterised by attacks of weakness or paralysis of skeletal muscles. Limited effective pharmacological treatments are available, and avoidance of lifestyle related triggers seems important. OBJECTIVE: Our aim was to search and assess the scientific literature for information on trigger factors related to nutrition and physical activity in PPP. METHODS: We searched Ovid Medline and Embase database for scientific papers published between January 1, 1990, to January 31, 2020. RESULTS: We did not identify published observation or intervention studies evaluating effect of lifestyle changes on attacks. Current knowledge is based on case-reports, expert opinions, and retrospective case studies with inadequate methods for description of nutrition and physical activity. In HypoPP, high carbohydrate and salt intake, over-eating, alcohol, dehydration, hard physical activity, and rest after exercise are frequently reported triggers. Regarding HyperPP, fasting, intake of potassium, alcohol, cold foods or beverages, physical activity, and rest after exercise are frequently reported triggers. No nutrition related triggers are reported regarding ATS, exercise can however induce ventricular arrhythmias. CONCLUSIONS: Our results support that dietary intake and physical activity may play a role in causing paralytic attacks in PPP, although the current scientific evidence is weak. To provide good evidence-based patient care, several lifestyle aspects need to be further assessed and described.
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Síndrome de Andersen/fisiopatología , Dieta , Ejercicio Físico , Parálisis Periódicas Familiares/fisiopatología , Parálisis/etiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
BACKGROUND: Studies of physical therapy and multidisciplinary rehabilitation programs for Huntington's disease (HD) have shown improvements in gait function, balance, and physical quality of life. There is a gap in the literature on effects of cognitive interventions and the potential to improve cognitive performance. OBJECTIVE: To assess changes in cognitive performance among patients with early to middle stage HD as secondary analyses from a one-year multidisciplinary rehabilitation program. The program included cognitive stimulation as a non-specific cognitive intervention in addition to physical interventions. METHODS: A one-year rehabilitation program that included comprehensive neuropsychological assessments was completed by 31 out 37 participants with early to middle stages of HD. Socio-demographic and clinical information was recorded. A battery of neuropsychological tests was used to measure cognitive functions before and after the intervention. Descriptive statistics was used for sample characteristics. Paired sample t-tests and nonparametric Wilcoxon Signed ranked tests were used to compare cognitive measures at both time points. RESULTS: Scores on the Symbol Digit Modalities Test (SDMT) were significantly lower post intervention. There were no significant differences in all other measures. Scores on the Stroop color naming and California Verbal Learning Test-II (CVLT-II) long-term delayed recall tasks showed tendencies towards lower scores post intervention. CONCLUSIONS: An intensive multidisciplinary rehabilitation program for patients with HD was generally well tolerated and feasible, with no indication of negative effects on cognition. Neuropsychological measures overall remained stable following an intensive multidisciplinary rehabilitation program, however continued progression of cognitive impairment was evident on the SDMT, suggesting that disease progression is not halted. Randomized controlled trials are needed to verify these findings.