Inherited Myopathies and Muscular Dystrophies

Cardamone, Michael; Darras, Basil T.; Ryan, Monique M.

doi:10.1055/s-2008-1062269

Cited by 62 publications

(42 citation statements)

References 62 publications

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“…CK-nivået er ofte betydelig forhøyet ved mange av muskeldystrofiene, men bare lett forhøyet eller normalt ved de arvelige myopatiene (1). Muskeldystrofiene affiserer muskelcellemembranene eller andre strukturer som fører til nedbryting av muskelfibre.…”

Section: Christoffer Jonsrudunclassified

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En mann i 50-årene med proksimal kraftsvikt og hjertesykdom

Ørstavik¹,

Garfelt²,

Leren³

et al. 2017

Tidsskriftet

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Section: Christoffer Jonsrudunclassified

“…For de aller fleste arvelige nevromuskulaere tilstander finnes ingen spesifikk behandling mot prosessene i muskler eller nerver (1,3,8). Dette gjelder også muskeldystrofier som skyldes mutasjoner i LMNA-genet.…”

Section: Diskusjonunclassified

En mann i 50-årene med proksimal kraftsvikt og hjertesykdom

Ørstavik¹,

Garfelt²,

Leren³

et al. 2017

Tidsskriftet

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“…1 Schwere Formen (bis zum "floppy infant"-Syndrom) einer kongenitalen Myopathie mit Cores (u. a. MultiminicoreMyopathie) werden autosomal-rezessiv vererbt und zeigen 2 Mutationen im RYR1-Gen, die häufig nicht in den Mutations-Hot-Spots liegen. Neuerdings konnte auch gezeigt werden, dass eine rezessive Keimbahnmutation genügt, wenn das materne RYR1-Allel im Muskelgewebe durch epigenetische Mechanismen abgeschaltet ist [13].…”

Section: Diagnostikunclassified

“…Die individuellen Mutationen sind über das ganze Gen verstreut, ohne klaren Hinweis auf eine Genotyp-Phänotyp-Korrelation. Über die Funktion des Proteins im Muskel ist wenig bekannt; Myoblastenzellkulturen ohne SEPN1-Expression sind sehr anfällig für oxidativen Stress ( [8], Über-sichten bei [1,3,6,8,12]). …”

Section: Diagnostikunclassified

Kongenitale Strukturmyopathien

Lutz¹,

Stiegler

Kreß³

et al. 2009

Medizinische Genetik

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Zusammenfassung Bei den kongenitalen Strukturmyopathien handelt es sich um eine heterogene Gruppe seltener erblicher Myopathien, die durch charakteristische licht- oder elektronenmikroskopisch sichtbare morphologische Einschlüsse oder Umlagerungen von Zellorganellen in der Muskelfaser der quergestreiften Muskulatur gekennzeichnet sind. Die ersten Symptome werden in der Regel bereits bei der Geburt und/oder im Kindesalter, seltener mit einer milderen Symptomatik im Erwachsenenalter manifest. Der Verlauf ist in der Regel nur langsam progredient, sehr selten rasch fortschreitend. Die kongenitalen Strukturmyopathien werden derzeit nach histologischen, immunhistologischen, ultrastrukturellen und auch molekulargenetischen Gesichtspunkten eingeteilt. Eine wachsende Zahl von Gendefekten wird für die Muskelveränderungen verantwortlich gemacht, wobei sowohl die phänotypische Variabilität bei Mutationen im gleichen Gen als auch die genetische Heterogenität bei ähnlichem Phänotyp zu berücksichtigen sind. Zu den häufigsten Formen gehören die nemaline Myopathie, die Core-Myopathien, die zentronukleären Myopathien sowie die kongenitale Fasertypendisproportion.

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“…Genetic muscle disorders are a diverse group of hereditary disorders that present with muscle weakness, cause significant comorbidities and result in reduced daily functioning [1]. It has been shown that a substantial proportion of people living with a chronic illness are affected by a genetic muscle disease [2].…”

Section: Introductionmentioning

confidence: 99%

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders

et al. 2019

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Background: Previous epidemiological studies of genetic muscle disorders have relied on medical records to identify cases and may be at risk of selection biases or have focused on selective population groups. Objectives: This study aimed to determine age-standardised prevalence of genetic muscle disorders through a nationwide, epidemiological study across the lifespan using the capture-recapture method. Methods: Adults and children with a confirmed clinical or molecular diagnosis of a genetic muscle disorder, resident in New Zealand on April 1, 2015 were identified using multiple overlapping sources. Genetic muscle disorders included the muscular dystrophies, congenital myopathies, ion channel myopathies, GNE myopathy, and Pompe disease. Prevalence per 100,000 persons by age, sex, disorder, ethnicity and geographical region with 95% CIs was calculated using Poisson distribution. Direct standardisation was applied to age-standardise prevalence to the world population. Completeness of case ascertainment was determined using capture-recapture modelling. Results: Age standardised minimal point prevalence of all genetic muscle disorders was 22.3 per 100,000 (95% CI 19.5–25.6). Prevalence in Europeans of 24.4 per 100,000, (95% CI 21.1–28.3) was twice that observed in NZ’s other 3 main ethnic groups; Māori (12.6 per 100,000, 95% CI 7.8–20.5), Pasifika (11.0 per 100,000, 95% CI 5.4–23.3), and Asian (9.13 per 100,000, 95% CI 5.0–17.8). Crude prevalence of myotonic dystrophy was 3 times higher in Europeans (10.5 per 100,000, 9.4–11.8) than Māori and Pasifika (2.5 per 100,000, 95% CI 1.5–4.2 and 0.7 per 100,000, 95% CI 0.1–2.7 respectively). There were considerable regional variations in prevalence, although there was no significant association with social deprivation. The final capture-recapture model, with the least deviance, estimated the study ascertained 99.2% of diagnosed cases. Conclusions: Ethnic and regional differences in the prevalence of genetic muscle disorders need to be considered in service delivery planning, evaluation, and decision making.

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Inherited Myopathies and Muscular Dystrophies

Cited by 62 publications

References 62 publications

En mann i 50-årene med proksimal kraftsvikt og hjertesykdom

En mann i 50-årene med proksimal kraftsvikt og hjertesykdom

Kongenitale Strukturmyopathien

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders

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