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Autor: Kolníková, Miriam

39 záznamů v Medvik Filtry

Článek

Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C

Bremova-Ertl, Tatiana
Autor Bremova-Ertl, Tatiana ORCID From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.) Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.) the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.) Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.) and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)
Ramaswami, Uma
Autor Ramaswami, Uma ORCID From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.) Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.) the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.) Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.) and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)
Brands, Marion
Autor Brands, Marion ORCID From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.) Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.) the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.) Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.) and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)
Foltan, Tomas
Autor Foltan, Tomas From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.) Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.) the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.) Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.) and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)
Gautschi, Matthias
Autor Gautschi, Matthias ORCID From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.) Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.) the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.) Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.) and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)
Gissen, Paul
Autor Gissen, Paul ORCID From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.) Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.) the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.) Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.) and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)
Gowing, Francesca
Autor Gowing, Francesca From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.) Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.) the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.) Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.) and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)
Hahn, Andreas
Autor Hahn, Andreas ORCID From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.) Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.) the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.) Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.) and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)
Jones, Simon
Autor Jones, Simon From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.) Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.) the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.) Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.) and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)
Kay, Richard
Autor Kay, Richard From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.) Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.) the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.) Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.) and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)

The New England journal of medicine. 2024 ; 390 (5) : 421-431. [pub] 20240201

N Engl J Med
ISSN 1533-4406
Medvik
Zdroj

BACKGROUND: Niemann-Pick disease type C is a rare lysosomal storage disorder. We evaluated the safety and efficacy of N-acetyl-l-leucine (NALL), an agent that potentially ameliorates lysosomal and metabolic dysfunction, for the treatment of Niemann-Pick disease type C. METHODS: In this double-blind, placebo-controlled, crossover trial, we randomly assigned patients 4 years of age or older with genetically confirmed Niemann-Pick disease type C in a 1:1 ratio to receive NALL for 12 weeks, followed by placebo for 12 weeks, or to receive placebo for 12 weeks, followed by NALL for 12 weeks. NALL or matching placebo was administered orally two to three times per day, with patients 4 to 12 years of age receiving weight-based doses (2 to 4 g per day) and those 13 years of age or older receiving a dose of 4 g per day. The primary end point was the total score on the Scale for the Assessment and Rating of Ataxia (SARA; range, 0 to 40, with lower scores indicating better neurologic status). Secondary end points included scores on the Clinical Global Impression of Improvement, the Spinocerebellar Ataxia Functional Index, and the Modified Disability Rating Scale. Crossover data from the two 12-week periods in each group were included in the comparisons of NALL with placebo. RESULTS: A total of 60 patients 5 to 67 years of age were enrolled. The mean baseline SARA total scores used in the primary analysis were 15.88 before receipt of the first dose of NALL (60 patients) and 15.68 before receipt of the first dose of placebo (59 patients; 1 patient never received placebo). The mean (±SD) change from baseline in the SARA total score was -1.97±2.43 points after 12 weeks of receiving NALL and -0.60±2.39 points after 12 weeks of receiving placebo (least-squares mean difference, -1.28 points; 95% confidence interval, -1.91 to -0.65; P<0.001). The results for the secondary end points were generally supportive of the findings in the primary analysis, but these were not adjusted for multiple comparisons. The incidence of adverse events was similar with NALL and placebo, and no treatment-related serious adverse events occurred. CONCLUSIONS: Among patients with Niemann-Pick disease type C, treatment with NALL for 12 weeks led to better neurologic status than placebo. A longer period is needed to determine the long-term effects of this agent in patients with Niemann-Pick disease type C. (Funded by IntraBio; ClinicalTrials.gov number, NCT05163288; EudraCT number, 2021-005356-10.).

MeSH
dítě MeSH
dospělí MeSH
dvojitá slepá metoda MeSH
klinické křížové studie MeSH
látky ovlivňující centrální nervový systém * aplikace a dávkování terapeutické užití MeSH
leucin analogy a deriváty terapeutické užití MeSH
lidé středního věku MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
Niemannova-Pickova nemoc typu C * komplikace diagnóza farmakoterapie genetika MeSH
předškolní dítě MeSH
sběr dat MeSH
senioři MeSH
výsledek terapie MeSH
Check Tag
dítě MeSH
dospělí MeSH
lidé středního věku MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
předškolní dítě MeSH
senioři MeSH
Publikační typ
časopisecké články MeSH
randomizované kontrolované studie MeSH

Článek

Orphanet journal of rare diseases. 2023 ; 18 (1) : 92. [pub] 20230424

Orphanet J Rare Dis
ISSN 1750-1172
Medvik
Zdroj

BACKGROUND: Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, again, neonatal-lethal but dominant cardiomyopathy. The genetic diagnostics of ATAD3A-related disorders is also challenging due to three paralogous genes in the ATAD3 locus, making it a difficult target for both sequencing and CNV analyses. RESULTS: Here we report four individuals from two families with compound heterozygous p.Leu77Val and exon 3-4 deletion in the ATAD3A gene. One of these patients was characterized as having combined OXPHOS deficiency based on decreased complex IV activities, decreased complex IV, I, and V holoenzyme content, as well as decreased levels of COX2 and ATP5A subunits and decreased rate of mitochondrial proteosynthesis. All four reported patients shared a strikingly similar clinical picture to a previously reported patient with the p.Leu77Val variant in combination with a null allele. They presented with a less severe course of the disease and a longer lifespan than in the case of biallelic loss-of-function variants. This consistency of the phenotype in otherwise clinically heterogenous disorder led us to the hypothesis that the severity of the phenotype could depend on the severity of variant impact. To follow this rationale, we reviewed the published cases and sorted the recessive variants according to their impact predicted by their type and the severity of the disease in the patients. CONCLUSION: The clinical picture and severity of ATAD3A-related disorders are homogenous in patients sharing the same combinations of variants. This knowledge enables deduction of variant impact severity based on known cases and allows more accurate prognosis estimation, as well as a better understanding of the ATAD3A function.

MeSH
ATPázy spojené s různými buněčnými aktivitami * genetika MeSH
biologická variabilita populace * MeSH
fenotyp MeSH
lidé MeSH
mitochondrie * genetika MeSH
Check Tag
lidé MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH

Článek

Dystrofinopatie
[Dystrophinopathies]

Československá pediatrie. 2022 ; 77 (4) : 198-205.

ISSN 0069-2328
Medvik
Zdroj

Dystrofinopatie predstavujú hereditárne podmienené neuromuskulárne ochorenia zo skupiny svalových dystrofií charakterizované úplnou absenciou alebo zníženou funkciou dystrofínového proteínu. Medzi dystrofinopatie radíme predovšetkým Duchennovu svalovú dystrofiu (DMD), Beckerovu svalovú dystrofiu (BMD) a DMD-asociovanú dilatačnú kardiomyopatiu (DCM). Vzhľadom na incidenciu ochorenia v populácii patria dystrofinopatie medzi najčastejšie neuromuskulárne ochorenia detského veku. V klinickom obraze sa typicky vyskytuje oneskorený motorický vývoj, progresívna svalová slabosť, pseudohypertrofie v oblasti lýtok a Gowersov príznak. Na základe klinických symptómov a pomocných vyšetrení (nález zvýšenej hodnoty kreatínkinázy) je následne diagnóza stanovená molekulárno- genetickým vyšetrením. V terapii je štandardne odporúčaná kortikosteroidná liečba pri súčasnom multidisciplinárnom manažmente pacienta v špecializovaných centrách pre neuromuskulárne ochorenia.

The dystrophinopathies are a spectrum of progressive muscular dystrophies that are caused by the absence of or decrease in the function of dystrophin protein. The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and DMD-associated dilated cardiomyopathy (DCM). Due to the incidence in the population, dystrophinopathy is one of the most common neuromuscular diseases of childhood. In clinical picture we can usually find delayed motor development, progressive muscle weakness, calf pseudohypertrophy and Gowers‘ sign. Based on clinical symptoms and initial tests (the finding of elevated creatine kinase), the diagnosis is made by molecular genetic testing. In therapy, corticosteroid therapy is recommended as standard treatment with multidisciplinary management of the patient in specialized centres for neuromuscular diseases.

MeSH
Duchennova muskulární dystrofie * diagnóza genetika terapie MeSH
dystrofin fyziologie účinky léků MeSH
genetické nemoci vázané na chromozom X diagnóza patologie terapie MeSH
lidé MeSH
management nemoci MeSH
mutace genetika MeSH
Check Tag
lidé MeSH
Publikační typ
přehledy MeSH

Článek

Liečiteľné vrodené poruchy metabolizmu s extrapyramídovou manifestáciou u detí
[Treatable inherited metabolic disorders with extrapyramidal manifestation in children]

Neurologie pro praxi. 2022 ; 23 (2) : 108-112. [pub] 20220421

ISSN 1213-1814
Medvik
Zdroj

Dedičné metabolické poruchy sa často prejavujú pohybovými poruchami, ktoré sú v klinickom obraze viac či menej vyjadrené. Môžu byť hyperkinetické: dystónia, chorea, atetóza, myoklonus, tremor, stereotypie, alebo hypokinetické: hypokineticko-rigidný syndróm. Diagnostika týchto chorôb je často veľmi zložitá, pretože rovnaká pohybová porucha môže byť spôsobená rozličnými ochoreniami. Podľa doterajších zistení je evidovaných viac ako dvesto dedičných metabolických porúch spojených s poruchami pohybu. Polovica z týchto chorôb vykazuje dva alebo viac príznakov, z ktorých sú najčastejšie dystónia a ataxia. Pre skorý záchyt a liečbu je dôležitý správny diagnostický postup, ktorý najprv vyžaduje presnú charakterizáciu pohybovej poruchy (typ, vek a charakter nástupu, rozsah vzniku) a zistenie neurologických a iných príznakov, biochemické, rádiologické vyšetrenie a genetické testovanie. Podstatné je rýchle odhalenie liečiteľných porúch.

Inherited metabolic disorders are often manifested by movement disorders that are more or less expressed in the clinical presentation. They can be hyperkinetic: dystonia, chorea, athetosis, myoclonus, tremor stereotypies or hypokinetic: hypokinetic-rigid syndrome. Diagnosis of these diseases is often very difficult, because of the fact that the same movement disorder can be caused by various diseases. To our current knowledge, more than two hundred inherited metabolic disorders associated with movement disorders have been registered so far. In half of these diseases two or more symptoms are present, the most common of which are ataxia and dystonia. Appropriate diagnostic approach, which requires an accurate description of movement disorder, is important for early diagnosis and treatment (type, age and character of onset, extent of onset) as well as other neurological and others symptoms, laboratory results, radiological findings, genetic testing. The essential goal is rapid detection of treatable disorders.

MeSH
atetóza etiologie MeSH
chorea etiologie MeSH
dítě MeSH
dystonie etiologie MeSH
lidé MeSH
pohybové poruchy etiologie MeSH
vrozené poruchy metabolismu * diagnóza terapie MeSH
Check Tag
dítě MeSH
lidé MeSH
Publikační typ
přehledy MeSH

Článek

Segawov syndróm, dopa-responzívna dystónia
[Segawa syndrome, dopa-responsive dystonia]

Neurologie pro praxi. 2021 ; 22 (6) : 525-528. [pub] 20211209

ISSN 1213-1814
Medvik
Zdroj

Segawov syndróm je autozomálne dominantne dedičný typ dystónie, prvýkrát opísaný Dr. Segawom v roku 1971. Patrí medzi dystónie vznikajúce v detskom veku, je často poddiagnostikovaná a najčastejšie sa zamieňa za detskú mozgovú obrnu. Charakteristické znaky ochorenia zahŕňajú dystonické prejavy na dolných končatinách, ich nástup v mladom veku, zhoršovanie ťažkostí v priebehu dňa a dramatickú terapeutickú odpoveď na levodopu. Príčina ochorenia spočíva v deficite GTP-cyklohydrolázy a diagnóza v potvrdení mutácie v géne GCH1. Prezentujeme prípad 12-ročnej pacientky s geneticky potvrdenou mutáciou v GCH1 géne asociovanou s dopa-responzívnou dystóniou, dlhodobo sledovanej ako detská mozgová obrna.

Segawa syndrome is an autosomal dominant type of dystonia, first described by Dr. Segawa in 1971. The onset of dystonia is usually in childhood, and is mostly misdiagnosed as cerebral palsy. Characteristics features include lower limb dystonia, young onset, worsening of the symptoms during the day and dramatic response to levodopa therapy. The disease is caused by a deficiency of GTP-cyclohydrolasis, and the diagnosis is established by genetical proof for GCH1 mutation. We would like to present a case-report of a 12-year-old girl, diagnosed with dopa-responsive dystonia, which has been initially misdiagnosed as cerebral palsy.

Klíčová slova
Segawova nemoc,
MeSH
dítě MeSH
dystonické poruchy * diagnóza patologie terapie MeSH
levodopa terapeutické užití MeSH
lidé MeSH
výsledek terapie MeSH
Check Tag
dítě MeSH
lidé MeSH
ženské pohlaví MeSH
Publikační typ
kazuistiky MeSH

Článek

Kongenitálna myopatia asociovaná s mutáciou v géne RYR1
[Congenital myopathy associated with RYR1 gene mutation (case report)]

Neurologie pro praxi. 2021 ; 22 (3) : 242-247. [pub] 20211001

ISSN 1213-1814
Medvik
Zdroj

Kongenitálne myopatie predstavujú výrazne heterogénnu skupinu geneticky podmienených neuromuskulárnych ochorení s variabilným fenotypom a charakteristickým histopatologickým obrazom. V klinickom obraze pacientov dominuje svalová slabosť a hypotónia, ktorá sa často prezentuje už pri narodení (obraz tzv. floppy baby syndróm). Ochorenie má skôr neprogresívny alebo pomaly progresívny charakter. V minulosti sa diagnostika kongenitálnych myopatií zakladala predovšetkým na bioptickom vyšetrení svalov, ktoré v súčasnosti nahradili metódy molekulovej genetiky. V našej kazuistike prezentujeme prípad 15-ročného chlapca s manifestáciou hypotonického syndrómu v novorodeneckom období nasledovaného postupným rozvojom ťažkostí s chôdzou až úplnou stratou samostatnej hybnosti.

Congenital myopathies are a heterogenous group of genetic neuromuscular disorders characterized by variable phenotype and characteristic histopathological picture. The clinical features of patients are muscle weakness and hypotonia, which is often present at birth and in the early months of life (floppy baby syndrome). The clinical course of disease is static or slowly progressive. In the past, diagnose of congenital myopathy was based on muscle biopsy, which has been replaced by methods of genetic testing. In our case report we presented a case of 15 years-old boy with a manifestation of hypotonic syndrome in the neonatal period, followed by difficulty walking and loss of ambulation.

MeSH
diagnostické techniky molekulární MeSH
dítě MeSH
lidé MeSH
mladiství MeSH
myopatie strukturální vrozené * diagnóza genetika terapie MeSH
nemoci novorozenců MeSH
novorozenec MeSH
progrese nemoci MeSH
ryanodinový receptor vápníkového kanálu MeSH
svalová hypotonie MeSH
Check Tag
dítě MeSH
lidé MeSH
mladiství MeSH
mužské pohlaví MeSH
novorozenec MeSH
Publikační typ
kazuistiky MeSH

Článek

A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C

European journal of neurology. 2021 ; 28 (9) : 3040-3050. [pub] 20210712

Eur J Neurol
ISSN 1468-1331
Medvik
Zdroj

OBJECTIVE: To characterize ocular motor function in patients with Niemann-Pick disease type C (NPC). METHODS: In a multicontinental, cross-sectional study we characterized ocular-motor function in 72 patients from 12 countries by video-oculography. Interlinking with disease severity, we also searched for ocular motor biomarkers. Our study protocol comprised reflexive and self-paced saccades, smooth pursuit, and gaze-holding in horizontal and vertical planes. Data were compared with those of 158 healthy controls (HC). RESULTS: Some 98.2% of patients generated vertical saccades below the 95% CI of the controls' peak velocity. Only 46.9% of patients had smooth pursuit gain lower than that of 95% CI of HC. The involvement in both downward and upward directions was similar (51°/s (68.9, [32.7-69.3]) downward versus 78.8°/s (65.9, [60.8-96.8]) upward). Horizontal saccadic peak velocity and latency, vertical saccadic duration and amplitude, and horizontal position smooth pursuit correlated best to disease severity. Compensating strategies such as blinks to elicit saccades, and head and upper body movements to overcome the gaze palsy, were observed. Vertical reflexive saccades were more impaired and slower than self-paced ones. Gaze-holding was normal. Ocular-motor performance depended on the age of onset and disease duration. CONCLUSIONS: This is the largest cohort of NPC patients investigated for ocular-motor function. Vertical supranuclear saccade palsy is the hallmark of NPC. Vertical upward and downward saccades are equally impaired. Horizontal saccadic peak velocity and latency, vertical saccadic duration and amplitude, and horizontal position smooth pursuit can be used as surrogate parameters for clinical trials. Compensating strategies can contribute to establishing a diagnosis.

Článek

Spinálna muskulárna atrofia - prvé skúsenosti s liečbou nusinersenom na Slovensku
[Spinal muscular atrophy - first experiences with nusinersen therapy in Slovakia]

Neurologie pro praxi. 2021 ; 22 (2) : 114-120. [pub] 20210430

ISSN 1213-1814
Medvik
Zdroj

Spinálna muskulárna atrofia (SMA) vzniká v dôsledku poruchy motorického neurónu z nedostatku proteínu SMN. Až 95 % prípadov je spôsobených homozygotnou deléciou v SMN1 géne v oblasti 5q13. Charakteristickým znakom ochorenia je prevažne proximálna svalová slabosť pri normálnom intelekte detí. Do roku 2018 bola na Slovensku dostupná len symptomatická liečba. V máji 2017 Európska lieková agentúra schválila pre SMA prvú komerčnú liečbu zo skupiny antisense nukleotidov - nusinersen. Na Slovensku sa začal podávať v auguste 2018 a doteraz je liečených 43 pacientov všetkých SMA typov v centrách v Bratislave, Banskej Bystrici a Košiciach.

Spinal muscular atrophy (SMA) is a motor neuron disorder due to SMN protein deficiency. Up to 95 % of cases are the homozygous deletion in the SMN1 gene located in the 5q13 region. The characteristic feature of the disease is predominantly proximal muscle weakness and the normal intellect of children. In 2017 was nusinersen approved for SMA therapy, it is a member of the antisense nucleotide family. Nusinersen was administered in Slovakia in August 2018 and so far, 43 patients of all SMA types have been treated in three centers: Bratislava, Banská Bystrica and Košice.