Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy

Annane, Djillali; Moore, Dan H.; Miller, Robert G.

doi:10.1002/14651858.cd003218.pub2

Cited by 31 publications

(8 citation statements)

References 26 publications

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“…Modafinil has long been used for the treatment of hypersomnia and fatigue in myotonic dystrophy. A C o c h r a n e r e v i ew i n 2 0 0 6 e x a m i n e d t h e u s e o f psychostimulants in DM and found that only 4 studies showed modafinil to have slight, but inconsistent benefits [37]. A double-blind, placebo-controlled trial in 13 patients performed later showed that modafinil did reduce somnolence but did not significantly increase activity level [38].…”

Section: Other Neurological Manifestationsmentioning

confidence: 99%

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

2018

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Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and type 2 is caused by a CCTG repeat expansion in the CNBP gene. Type 1 is associated with distal limb, neck flexor, and bulbar weakness and results in different phenotypic subtypes with variable onset from congenital to very late-onset as well as variable signs and symptoms. The classically described adult-onset form is the most common. In contrast, myotonic dystrophy type 2 is adult-onset or late-onset, has proximal predominant muscle weakness, and generally has less severe multisystem involvement. In both forms of myotonic dystrophy, the best characterized disease mechanism is a RNA toxic gain-of-function during which RNA repeats form nuclear foci resulting in sequestration of RNA-binding proteins and, therefore, dysregulated splicing of premessenger RNA. There are currently no disease-modifying therapies, but clinical surveillance, preventative measures, and supportive treatments are used to reduce the impact of muscular impairment and other systemic involvement including cataracts, cardiac conduction abnormalities, fatigue, central nervous system dysfunction, respiratory weakness, dysphagia, and endocrine dysfunction. Exciting preclinical progress has been made in identifying a number of potential strategies including genome editing, small molecule therapeutics, and antisense oligonucleotide-based therapies to target the pathogenesis of type 1 and type 2 myotonic dystrophies at the DNA, RNA, or downstream target level.

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Section: Other Neurological Manifestationsmentioning

confidence: 99%

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

2018

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“…Psychostimulants, i.e. drugs that increase alertness, are used to treat excessive daytime sleepiness, although there is limited evidence to support their routine use 71 .…”

Section: Mental Functionsmentioning

confidence: 99%

Reliability and feasibility of the six minute walk test in subjects with myotonic dystrophy

Kierkegaard

Tollbäck

2007

Neuromuscular Disorders

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“…Tagesmüdigkeit: Bei Hypersomnie, die sich vor allen Dingen in fortgeschritteneren Stadien bei DM1 und DM2 entwickeln kann, wurde die Wirksamkeit von Modafinil in einer Metaanalyse nicht bestätigt (7). Nächtliche Hypoventilation/Schlaf-Apnoe-Syndrom: Vor allem die DM1, seltener auch die DM2, gehen überdurchschnittlich häufig mit einem Schlaf-Apnoe-Syndrom einher.…”

Section: Symptomatische Therapieunclassified

Therapie und Monitoring neuromuskulärer Repeat-Erkrankungen

Schneider‐Gold¹,

Petri²

2017

Nervenheilkunde

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ZusammenfassungRepeat-Erkrankungen sind hereditäre durch pathologische Expansionen sich wiederholender Triplettoder Multiplett-DNA-Sequenzen (Repeats) hervorgerufene, in der Regel multisystemische Erkrankungen. Bevorzugt das neuromuskuläre System betreffen die myotonen Dystrophien Typ 1 und 2 (DM 1, 2), die okulopharyngeale Muskeldystrophie (OPMD), die spinobulbäre Muskelatrophie (SBMA, auch Kennedy-Syndrom) und eine Form der ALS, die durch Repeat-Expansionen im C9ORF72-Gen verursacht wird. Zunehmendes Verständnis der molekularen Pathogenese dieser Erkrankungen bildet die Grundlage für neue kausale Therapiestrategien, die sich überwiegend noch im präklinischen Stadium befinden oder in ersten klinischen Studien getestet werden. Das Monitoring und die Therapie von neurologischen und internistischen Symptomen (wie respiratorischer Insuffizienz oder kardialer Mitbeteiligung) erfordert eine interdisziplinäre Betreuung.

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Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy

Cited by 31 publications

References 26 publications

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

Reliability and feasibility of the six minute walk test in subjects with myotonic dystrophy

Therapie und Monitoring neuromuskulärer Repeat-Erkrankungen

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