Rare and genetic diseases

Treatment of obstructive sleep apnoea for chronic cough in children

Abstract Background Childhood obstructive sleep apnoea (OSA) is a disorder that is characterised by repeated episodes of partial or complete upper airway obstruction (UAO) during sleep that result in disruption of normal ventilation and sleep patterns. Chronic cough in children is a significant medical problem and in some situations warrants thorough investigation. There may be […]

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Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy

Abstract Background Excessive daytime sleepiness is a common symptom of myotonic dystrophy. Psychostimulants are drugs increasingly used to treat hypersomnia in myotonic dystrophy. Objectives To search systematically for, and combine all evidence from, randomized trials relating to the effects of psychostimulants in myotonic dystrophy patients with hypersomnia. Search methods We searched the Cochrane Neuromuscular Disease […]

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Calcium antagonists for Duchenne muscular dystrophy

Abstract Background Duchenne muscular dystrophy (DMD) is a progressive muscle condition starting in childhood, leading to severe disability and a shortened life span. It is due to severe deficiency of the protein dystrophin which performs both structural and signalling roles within skeletal and cardiac myocytes. Calcium accumulates in dystrophic muscle cells and plays a role […]

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Treatment for familial amyotrophic lateral sclerosis/motor neuron disease

Abstract Background Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a rare neurodegenerative disease. Approximately 5% to 7% of ALS/MND patients report a family history of a similarly affected relative. Superoxide dismutase-1 gene mutations are the cause in about 20% of familial cases. In those with non-familial (sporadic) ALS/MND the cause […]

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Aerobic exercise training programmes for improving physical and psychosocial health in adults with Down syndrome

Abstract Background Although physical fitness has been suggested to improve physical and psychosocial health for a variety of population profiles, there is a lack of information about the safety and effectiveness of aerobic exercise for adults with Down syndrome. Objectives To evaluate the effectiveness and safety of aerobic exercise training programmes for physiological and psychosocial […]

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Scapular fixation in muscular dystrophy

Abstract Background Winging of the scapula is caused by weakness of the thoracoscapular muscles, which allows the scapula to lift off the chest wall during shoulder movements. In facioscapulohumeral muscular dystrophy (and occasionally in other muscular dystrophies) there is selective weakness of the thoracoscapular muscles which may spare other shoulder muscles such as the deltoid […]

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Drug treatment for myotonia

Abstract Background Abnormal delayed relaxation of skeletal muscles, known as myotonia, can cause disability in myotonic disorders. Sodium channel blockers, tricyclic antidepressive drugs, benzodiazepines, calcium-antagonists, taurine and prednisone may be of use in reducing myotonia. Objectives To consider the evidence from randomised controlled trials on the efficacy and tolerability of drug treatment in myotonia . […]

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Therapeutic interventions for disease progression in Huntington’s disease

Abstract Background Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease with an average onset between the fourth and fifth decade of life; it leads to death 15 to 20 years after the onset of symptoms. Although several drugs seem effective in controlling the incapacitating manifestations of HD, no specific therapy is known. The present […]

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Drug treatment for facioscapulohumeral muscular dystrophy

Abstract Background Facioscapulohumeral muscular dystrophy is a progressive muscle disease which has no agreed treatment. Early suggestions that corticosteroids might be helpful were not supported by a subsequent open label study. The beta 2 adrenergic agonist albuterol, also known as salbutamol, is known to have anabolic effects which might be beneficial for facioscapulohumeral muscular dystrophy. […]

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