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Presentation A 28 year old female presented to the emergency department with a one week history of headache, vomiting and diaphoresis. Creatinine on admission was 492 and urinalysis revealed blood and protein. This was 5 months after a second infusion of Alemtuzumab, for treatment of highly active relapsing remitting multiple sclerosis. Diagnosis Anti-glomerular basement membrane disease was diagnosed after a vasculitic screen was sent for suspected glomerulonephritis. Treatment Unfortunately despite early diagnosis and immunosuppressive treatment, the patient progressed to end stage kidney failure. Conclusion It is important to maintain a high index of suspicion and test for anti-GBM disease in patients receiving alemtuzumab who develop acute renal failure.
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Alemtuzumab/efectos adversos , Enfermedad por Anticuerpos Antimembrana Basal Glomerular/etiología , Antineoplásicos Inmunológicos/administración & dosificación , Antineoplásicos Inmunológicos/efectos adversos , Autoanticuerpos , Glomerulonefritis/etiología , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Adulto , Alemtuzumab/administración & dosificación , Enfermedad por Anticuerpos Antimembrana Basal Glomerular/diagnóstico , Progresión de la Enfermedad , Femenino , Glomerulonefritis/diagnóstico , Humanos , Fallo Renal Crónico/etiología , Esclerosis Múltiple Recurrente-Remitente/complicaciones , Vasculitis/diagnóstico , Vasculitis/etiologíaRESUMEN
BACKGROUND: Adult onset idiopathic isolated focal dystonia presents with a number of phenotypes. Reported prevalence rates vary considerably; well-characterized cohorts are important to our understanding of this disorder. AIM: To perform a nationwide epidemiological study of adult onset idiopathic isolated focal dystonia in the Republic of Ireland. METHODS: Patients with adult onset idiopathic isolated focal dystonia were recruited from multiple sources. Diagnosis was based on assessment by a neurologist with an expertise in movement disorders. When consent was obtained, a number of clinical features including family history were assessed. RESULTS: On the prevalence date there were 592 individuals in Ireland with adult onset idiopathic isolated focal dystonia, a point prevalence of 17.8 per 100 000 (95% confidence interval 16.4-19.2). Phenotype numbers were cervical dystonia 410 (69.2%), blepharospasm 102 (17.2%), focal hand dystonia 39 (6.6%), spasmodic dysphonia 18 (3.0%), musician's dystonia 17 (2.9%) and oromandibular dystonia six (1.0%). Sixty-two (16.5%) of 375 consenting index cases had a relative with clinically confirmed adult onset idiopathic isolated focal dystonia (18 multiplex and 24 duplex families). Marked variations in the proportions of patients with tremor, segmental spread, sensory tricks, pain and psychiatric symptoms by phenotype were documented. CONCLUSIONS: The prevalence of adult onset idiopathic isolated focal dystonia in Ireland is higher than that recorded in many similar service-based epidemiological studies but is still likely to be an underestimate. The low proportion of individuals with blepharospasm may reflect reduced environmental exposure to sunlight in Ireland. This study will serve as a resource for international comparative studies of environmental and genetic factors in the pathogenesis of the disorder.
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Trastornos Distónicos/epidemiología , Trastornos Distónicos/genética , Adulto , Factores de Edad , Edad de Inicio , Anciano , Anciano de 80 o más Años , Blefaroespasmo/epidemiología , Blefaroespasmo/etiología , Progresión de la Enfermedad , Trastornos Distónicos/complicaciones , Ambiente , Femenino , Humanos , Irlanda/epidemiología , Masculino , Trastornos Mentales/etiología , Trastornos Mentales/psicología , Persona de Mediana Edad , Prevalencia , Factores Sexuales , Luz Solar , Temblor/etiología , Temblor/fisiopatología , Adulto JovenAsunto(s)
COVID-19 , Partería , COVID-19/prevención & control , Vacunas contra la COVID-19 , Femenino , Humanos , Embarazo , Vacunación , Vacilación a la VacunaciónRESUMEN
Myasthenia Gravis (MG) is a disorder affecting components of the neuromuscular junction. Epidemiological studies show rising incidence and prevalence rates. The aim of this study was to determine the incidence and prevalence of MG in the Republic of Ireland. Data sources included patient lists from consultant neurologists and ophthalmologists, a neuroimmunology laboratory, general practitioners and the Myasthenia Gravis Association. A total of 1715 cases were identified, of which 706 definite, probable or possible autoimmune and congenital MG cases were included. The overall prevalence rate from the data obtained is 15.38/100,000. The study demonstrated a female preponderance (female:male of 1.3: 1) and some geographical variation within Ireland. The average incidence rate for the years 2000 to 2009 was 11.3 per year; the rate for the current decade is 18 per year. The increasing number of diagnoses may be due to improved access to diagnostic investigations and increasing awareness of the clinical manifestations.
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AIM: Estimated average glucose has been used to transform HbA1c into a glucose measure that might better inform patients of their glycaemic control. The data set used to obtain the estimated average glucose equation was derived in adults with Type 1 and Type 2 diabetes, along with normal healthy control subjects, and requires testing in children. METHODS: This was a cross-sectional study of 234 children and young people (106 male) with Type 1 diabetes aged 4.0-23.5 years who underwent continuous glucose monitoring over a 5-day period along with a measure of HbA1c . Regression analysis was used to determine estimated average glucose and agreement was assessed with the average glucose estimated from the Nathan equation: Nathan average glucose equation = 1.59 (HbA1c% ) - 2.59. RESULTS: Mean HbA1c was 76 mmol/mol (25.1) [9.1 (2.3)%] and mean continuous glucose monitoring tissue glucose was 10.4 (2.6) mmol/l. The relationship between continuous glucose monitoring tissue glucose and HbA1c was described by the paediatric equation: paediatric estimated average glucose = 0.49 (HbA1c %) + 5.95 (r = 0.45; P < 0.001). The mean paediatric estimated average glucose was 10.4 (1.1) mmol/l compared with that from the Nathan average glucose equation of 11.9 (3.7) mmol/l (P < 0.001). Overall, the paediatric estimated average glucose was 2.7 mmol/l lower than the Nathan estimated average glucose, with a 95% limit of agreement of ± 0.5 mmol/l. The agreement was very close with HbA1c values below 80 mmol/mol (9.5%). CONCLUSION: These data suggest that the Nathan estimated average glucose could be used in children and young people with Type 1 diabetes. Caution should still be exercised in the estimates derived for average glucose as the data set is skewed in both Nathan and paediatric average glucose estimates in opposite directions because of the differences in average HbA1c .
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Glucemia/metabolismo , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Hemoglobina Glucada/metabolismo , Hipoglucemiantes/uso terapéutico , Insulina/uso terapéutico , Adolescente , Automonitorización de la Glucosa Sanguínea , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Valor Predictivo de las Pruebas , Reproducibilidad de los Resultados , Factores de Tiempo , Resultado del Tratamiento , Adulto JovenRESUMEN
The genetic basis for susceptibility to malaria has been studied widely in African populations but less is known of the contribution of specific genetic variants in Asian populations. We genotyped 67 single-nucleotide polymorphisms (SNPs) in 1030 severe malaria cases and 2840 controls from Vietnam. After data quality control, genotyping data of 956 cases and 2350 controls were analysed for 65 SNPs (3 gender confirmation, 62 positioned in/near 42 malarial candidate genes). A total of 14 SNPs were monomorphic and 2 (rs8078340 and rs33950507) were not in Hardy-Weinberg equilibrium in controls (P<0.01). In all, 7/46 SNPs in 6 genes (ICAM1, IL1A, IL17RC, IL13, LTA and TNF) were associated with severe malaria, with 3/7 SNPs in the TNF/LTA region. Genotype-phenotype correlations between SNPs and clinical parameters revealed that genotypes of rs708567 (IL17RC) correlate with parasitemia (P=0.028, r(2)=0.0086), with GG homozygotes having the lowest parasite burden. Additionally, rs708567 GG homozygotes had a decreased risk of severe malaria (P=0.007, OR=0.78 (95% CI; 0.65-0.93)) and death (P=0.028, OR=0.58 (95% CI; 0.37-0.93)) than those with AA and AG genotypes. In summary, variants in six genes encoding adhesion and proinflammatory molecules are associated with severe malaria in the Vietnamese. Further replicative studies in independent populations will be necessary to confirm these findings.
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Moléculas de Adhesión Celular/genética , Mediadores de Inflamación/inmunología , Malaria Falciparum/genética , Malaria Falciparum/inmunología , Adulto , Pueblo Asiatico/genética , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Variación Genética , Humanos , Molécula 1 de Adhesión Intercelular/genética , Interleucina-13/genética , Interleucina-1alfa/genética , Masculino , Parasitemia/genética , Parasitemia/inmunología , Polimorfismo de Nucleótido Simple , Receptores de Interleucina/genética , Factor de Necrosis Tumoral alfa/genética , Vietnam , Adulto JovenRESUMEN
Ireland has the lowest number of consultant neurologists per capita in Europe. This results in long waiting lists, overbooked clinics, unnecessary emergency department presentations and patient frustration. In 2006, the neurology department in St. Vincent's University Hospital and the National Healthlink project, launched an internet referral system (Neurolink) for GPs, to alleviate the administrative burden on staff, reduce unnecessary visits for patients, shorten waiting lists and improve patient care. 710 electronic referrals from GPs between December 2006 and January 2011 were analysed. The average time taken to for a consultant to reply to a GP referral was 19hours 8minutes. When asked their opinion as to the suspected aetiology 33.7% (239/710) of GPs selected the option "unknown", followed by epilepsy 12.1% (86/710), migraine 12% (85/710), and multiple sclerosis 7.6% (54/710). Significantly, 19% (127/662) of referrals did not require a neurology outpatient appointment and the GP was given advice. The results highlight the benefits of using an electronic communication system with primary care; allowing prompt response to GP enquires, early initiation of treatment and reducing the number of patients attending hospital clinics.
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Diagnóstico por Computador/estadística & datos numéricos , Internet/estadística & datos numéricos , Enfermedades del Sistema Nervioso/epidemiología , Enfermedades del Sistema Nervioso/terapia , Relaciones Profesional-Paciente , Derivación y Consulta/estadística & datos numéricos , Bases de Datos como Asunto , Diagnóstico por Computador/métodos , Epilepsia/epidemiología , Epilepsia/terapia , Femenino , Humanos , Comunicación Interdisciplinaria , Irlanda , Masculino , Esclerosis Múltiple/epidemiología , Esclerosis Múltiple/terapia , Neurología/estadística & datos numéricos , Educación del Paciente como Asunto/estadística & datos numéricos , Participación del Paciente/estadística & datos numéricos , PsicometríaRESUMEN
In response to Ferrazano and colleagues' observation of normal DAT binding in patients with isolated head tremor but with abnormal STDT, we report normal 123-IBZM SPECT in a cohort of patients with adult-onset idiopathic focal dystonia with cervical dystonia and their unaffected first-degree relatives both with normal and abnormal TDTs. We discuss molecular imaging findings in dystonia.
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Trastornos Distónicos , Tortícolis , Adulto , Humanos , Tomografía Computarizada de Emisión de Fotón Único , Temblor/diagnóstico por imagenRESUMEN
A survey was conducted in UK regional children's hospitals with paediatric intensive care and paediatric infectious disease (PID) departments to describe the characteristics of paediatric antimicrobial stewardship (PAS) programmes. A structured questionnaire was sent to PAS coordinators. 'Audit and feedback' was implemented in 13 out of 17 centres. Microbiology-led services were more likely to implement antimicrobial restriction (75% vs 33% in PID-led services), to focus on broad-spectrum antibiotics, and to review patients with positive blood cultures. PID-led services were more likely to identify patients from e-prescribing or drug charts and review all antimicrobials. A PAS network has been established.
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Antibacterianos/uso terapéutico , Programas de Optimización del Uso de los Antimicrobianos , Implementación de Plan de Salud , Hospitales Pediátricos , Pautas de la Práctica en Medicina , Niño , Enfermedades Transmisibles/tratamiento farmacológico , Humanos , Unidades de Cuidado Intensivo Neonatal , Encuestas y Cuestionarios , Reino UnidoRESUMEN
OBJECTIVE: To describe the self-reported management of hypertension in general practice and how this compares to national guidelines for hypertension. DESIGN: Analysis of self-reported cross-sectional clinical audit data. SETTING: Australian general practice for the years 1999, 2001, 2003 and 2004. STUDY POPULATION: A total of 5247 general practitioners who voluntarily participated in one of four hypertension clinical audits and provided data for 105,086 adult patients with a previous diagnosis of hypertension. MAIN OUTCOME MEASURES: Selection of blood pressure targets consistent with recommendation of hypertension guidelines, percentage of patients achieving target blood pressure and percentage of patients with selected co-morbidities treated with the preferred class of antihypertensive medications. RESULTS: In 2001, target blood pressures of 140/90 mmHg and 130/85 mmHg were being used for 38% and 55% of patients, respectively. In 2004, target blood pressures were 140/90 mmHg (39%), 130/85 mmHg (49%) and 125/75 mmHg (0.5%). In 2003 and 2004, 58% and 70% of patients were reported to have achieved a target blood pressure that was consistent with guidelines according to patient age and co-morbidities. However, only 54-62% of hypertensive patients with heart failure were prescribed an ACE inhibitor and 52% of patients with a history of myocardial infarction were receiving a beta-blocker or ACE inhibitor. CONCLUSIONS: The self-reported data from general practitioners participating in clinical audits show that these general practitioners are using blood pressures targets consistent with guideline recommendations for most patients and that more patients are reaching their target blood pressure. However, drug selection based on co-morbidities could improve.
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Antihipertensivos/uso terapéutico , Medicina Familiar y Comunitaria/normas , Hipertensión/tratamiento farmacológico , Pautas de la Práctica en Medicina/normas , Antagonistas Adrenérgicos beta/uso terapéutico , Adulto , Factores de Edad , Anciano , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Australia , Presión Sanguínea/efectos de los fármacos , Comorbilidad , Estudios Transversales , Recolección de Datos , Femenino , Insuficiencia Cardíaca/complicaciones , Insuficiencia Cardíaca/tratamiento farmacológico , Humanos , Hipertensión/complicaciones , Masculino , Persona de Mediana Edad , Infarto del Miocardio/complicaciones , Infarto del Miocardio/tratamiento farmacológico , Guías de Práctica Clínica como Asunto , Pautas de la Práctica en Medicina/estadística & datos numéricosRESUMEN
BACKGROUND: The clinical manifestations of neurosarcoidosis are highly variable and it should be considered as a potential differential diagnosis in any neurological presentation. AIM: This study was designed to describe the clinical, diagnostic, and treatment patterns and functional outcome in a Caucasian neurosarcoidosis population. DESIGN: A retrospective analysis was performed on prospectively recorded data in patients attending our neurology clinic between 2008 and 2014 with a diagnosis of definite or probable neurosarcoidosis according to Zajiek criteria. METHODS: Detailed clinical features, baseline demographic data, results of investigations, treatment type and duration, and clinical outcomes were collated. RESULTS: Eleven patients were identified (55% men) with mean age 39 years (range 21-63). Four had a prior history of systemic sarcoidosis leading to earlier diagnosis (6.7 vs 13.1 months). Six were found to have evidence of systemic sarcoidosis on further investigation and one was biopsy proven isolated neurosarcoidosis. The commonest site of CNS involvement was the cranial nerves (64%), and headache (45%) was the most frequent presenting symptom. MRI abnormalities included leptomeningeal enhancement, white matter lesions, acute arteritis, spinal cord lesion, and cauda equina enhancement. The commonest CSF finding was raised protein (n = 6) and a lymphocytic pleocytosis (n = 7). Serum ACE was only elevated in three cases. Ten patients were treated with both corticosteroids and steroid-sparing agents 8 of whom went into remission. CONCLUSIONS: This series highlights the diverse nature of neurosarcoidosis. Early introduction of aggressive therapy with corticosteroids and steroid-sparing agents appears to improve clinical outcome.
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Enfermedades del Sistema Nervioso Central/terapia , Inmunoterapia/métodos , Sarcoidosis/terapia , Adulto , Femenino , Humanos , Irlanda , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
IMPORTANCE: Posterior reversible encephalopathy syndrome (PRES) is a medical emergency but prompt recognition, early institution of supportive care and identifying and removing potential triggers are associated with a good clinical outcome. We report an unusual case of PRES associated with liquorice consumption. OBSERVATIONS: A 56-year-old lady presented with thunderclap headache, visual disturbance and a generalised tonic-clonic seizure. Blood pressure on admission was markedly elevated but improved within 24 h. Cranial CT and lumbar puncture were normal (no xanthochromia). She had hypokalaemia. Cranial MRI revealed abnormalities in the occipital lobes consistent with PRES. There was no evidence of restricted diffusion or vasoconstriction. Follow-up MRI 3 weeks later demonstrated complete resolution. On direct questioning she revealed in recent months she had habitually eaten liquorice sweets each day; they were "on special offer" in her local shop. CONCLUSION AND RELEVANCE: Liquorice contains a biologically active compound glycyrrhizic acid which inhibits 11ß hydroxysteroid dehydrogenase. Excessive liquorice consumption can cause mineralocorticoid excess and has been recently reported to cause PRES. We propose that in the absence of other triggers, frequent liquorice consumption precipitated the development of PRES in our patient and should be considered as a possible cause of this condition.
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Glycyrrhiza/efectos adversos , Síndrome de Leucoencefalopatía Posterior/etiología , Dulces/efectos adversos , Epilepsia Tónico-Clónica/etiología , Femenino , Ácido Glicirrínico/efectos adversos , Cefaleas Primarias/etiología , Humanos , Hiperaldosteronismo/etiología , Hipertensión/etiología , Imagen por Resonancia Magnética , Persona de Mediana Edad , Síndrome de Leucoencefalopatía Posterior/patología , Trastornos de la Visión/etiologíaRESUMEN
The authors report unusual presentations of members of an Irish family with familial AD due to an E280G mutation in exon 8 of presenilin-1. One had spastic paraparesis and white matter abnormalities on cranial MRI. A sibling had an internuclear ophthalmoplegia, spastic-ataxic quadriparesis, and "cotton-wool plaques" with amyloid angiopathy on brain biopsy. Another affected sibling also had MRI white matter abnormalities. The MRI findings may reflect an ischemic leukoencephalopathy due to amyloid angiopathy affecting meningocortical vessels.
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Sustitución de Aminoácidos/genética , Encéfalo/patología , Imagen por Resonancia Magnética , Proteínas de la Membrana/genética , Mutación/genética , Paraparesia Espástica/genética , Adulto , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/patología , Femenino , Humanos , Imagen por Resonancia Magnética/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Presenilina-1RESUMEN
Sixty unconstrained elbow replacements of a new design have been followed prospectively for three to nine years. Review showed that 50% had excellent relief of pain and return of function, 27% had had major complications requiring removal or revision of the prosthesis and 23% had minor complications which marred the result. Further research in this field seems worthwhile.
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Articulación del Codo/cirugía , Prótesis Articulares , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Prospectivos , Diseño de Prótesis , Falla de PrótesisRESUMEN
BACKGROUND: Early, limb-onset primary torsion dystonia (PTD) is commonly due to a trinucleotide GAG deletion in the TOR1A (DYT1) gene on chromosome 9q34. The majority of carriers of this mutation conform to a characteristic phenotype that is similar in different ethnic populations. AIM: To describe the clinical features of affected members of a large Irish family with PTD due to the TOR1A deletion. METHODS: Fourteen consenting family members from three generations were examined according to a standardised protocol. RESULTS: Five affected individuals were identified. Two had a somewhat atypical phenotype with focal and segmental upper-limb dystonia without further progression. CONCLUSION: The authors describe the clinical features of PTD due to the TOR1A GAG deletion in an Irish family illustrating the presence of intrafamilial phenotypic variability.
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Proteínas Portadoras/genética , Distonía Muscular Deformante/genética , Eliminación de Gen , Genes gag/genética , Chaperonas Moleculares , Mutación , Adulto , Humanos , Persona de Mediana Edad , LinajeRESUMEN
BACKGROUND: Rates of unemployment and early retirement are increased in Parkinson's disease (PD) and contribute to disease burden. AIMS: To investigate time to loss of employment from PD onset and predictors of continued employment; to identify common issues and possible interventions in the workplace. METHODS: Eighty-eight patients with PD diagnosed at age≤65 years took part in a retrospective cohort study. Veterans RAND Short Form-36 and an employment survey were administered. RESULTS: Unemployment rates for males were increased compared to the general Irish population (standardized ratio of 1.6, 95% CI 1.2-2.2, P<0.05). There was no significant difference for females. Median retirement age was 58 years for males and 61 years for females compared to 63.5 and 65 years, respectively, in the general population. In survival analysis, median time to loss of employment was 7 years (95% CI 4.8-9.2). After 5 years, 40% remained working and 14% after 10 years. Early age of PD onset (P<0.001), early diagnosis (P<0.002) and high scores in vitality (P<0.005) were associated with prolonged employment. There was no association with sex, education, type or hours of work. Slowness, fatigue and tremor were the most challenging symptoms at work. Changes in work schedule and type of work were suggested helpful adjustments. CONCLUSION: Loss of employment places a significant socioeconomic burden on young PD patients. More detailed examination of specific issues and reasonable adjustments is needed, along with patient and employer education.
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Empleo/estadística & datos numéricos , Enfermedad de Parkinson/economía , Enfermedad de Parkinson/epidemiología , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores Socioeconómicos , Encuestas y Cuestionarios , Análisis de Supervivencia , Desempleo/estadística & datos numéricosRESUMEN
Disordered copper metabolism may be important in the aetiology of Parkinsonism, as caeruloplasmin is a key enzyme in handling oxidative stress and is involved in the synthesis pathway of dopamine. The human Cu metabolism of ten Parkinsonism patients was compared to ten healthy controls with the aid of a stable (65)Cu isotope tracer. The analyses of blood serum (65)Cu/(63)Cu ratios yielded individual isotopic profiles, which indicate that the Cu metabolism is less controlled in patients with Parkinsonism. Modelling based on both isotope tracer and total Cu concentrations suggests that 30% of the subjects affected by Parkinsonism have abnormally large Cu stores in tissues. To detect the small differences in Cu metabolism between Parkinsonism and controls, the analysis of stable isotope composition must be performed using multiple-collector inductively coupled plasma mass spectrometry and the associated sample preparation techniques. This pilot investigation supports full-scale medical studies into the Cu metabolism of those with Parkinsonism.
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Cobre/sangre , Isótopos/sangre , Trastornos Parkinsonianos/sangre , Adulto , Anciano , Humanos , Persona de Mediana EdadAsunto(s)
Enfermedades Cerebelosas/complicaciones , Enfermedades Cerebelosas/terapia , Hidrocefalia/complicaciones , Hidrocefalia/terapia , Encefalopatía Hipertensiva/complicaciones , Encefalopatía Hipertensiva/terapia , Adulto , Enfermedades Cerebelosas/diagnóstico , Humanos , Hidrocefalia/diagnóstico , Encefalopatía Hipertensiva/diagnóstico , MasculinoRESUMEN
Adult-onset primary torsion dystonia (AOPTD) is an autosomal dominant disorder with markedly reduced penetrance. Sensory abnormalities are present in AOPTD and also in unaffected relatives, possibly indicating non-manifesting gene carriage (acting as an endophenotype). The temporal discrimination threshold (TDT) is the shortest time interval at which two stimuli are detected to be asynchronous. We aimed to compare the sensitivity and specificity of three different TDT tasks (visual, tactile and mixed/visual-tactile). We also aimed to examine the sensitivity of TDTs in different AOPTD phenotypes. To examine tasks, we tested TDT in 41 patients and 51 controls using visual (2 lights), tactile (non-painful electrical stimulation) and mixed (1 light, 1 electrical) stimuli. To investigate phenotypes, we examined 71 AOPTD patients (37 cervical dystonia, 14 writer's cramp, 9 blepharospasm, 11 spasmodic dysphonia) and 8 musician's dystonia patients. The upper limit of normal was defined as control mean +2.5 SD. In dystonia patients, the visual task detected abnormalities in 35/41 (85%), the tactile task in 35/41 (85%) and the mixed task in 26/41 (63%); the mixed task was less sensitive than the other two (p = 0.04). Specificity was 100% for the visual and tactile tasks. Abnormal TDTs were found in 36 of 37 (97.3%) cervical dystonia, 12 of 14 (85.7%) writer's cramp, 8 of 9 (88.8%) blepharospasm, 10 of 11 (90.1%) spasmodic dysphonia patients and 5 of 8 (62.5%) musicians. The visual and tactile tasks were found to be more sensitive than the mixed task. Temporal discrimination threshold results were comparable across common adult-onset primary torsion dystonia phenotypes, with lower sensitivity in the musicians.