Corticosteroids for the treatment of Duchenne muscular dystrophy
Abstract Background Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood. Untreated, this incurable disease, which has an X-linked recessive inheritance, is characterised by muscle wasting and loss of walking ability, leading to complete wheelchair dependence by 13 years of age. Prolongation of walking is a major aim of treatment. Evidence from […]
Treatment for dysphagia (swallowing difficulties) in hereditary ataxia
Abstract Background Hereditary ataxias are a heterogeneous group of disorders resulting in progressive inco-ordination. Swallowing impairment, also known as dysphagia, is a common and potentially life threatening sequel of disease progression. The incidence and nature of dysphagia in these conditions is largely unknown. The loss of an effective and safe swallow can dramatically affect the […]
Pharmacological interventions for cognitive decline in people with Down syndrome
Abstract Background People with Down syndrome are vulnerable to developing dementia at an earlier age than the general population. Alzheimer’s disease and cognitive decline in people with Down syndrome can place a significant burden on both the person with Down syndrome and their family and carers. Various pharmacological interventions, including donepezil, galantamine, memantine and rivastigmine, […]
Surgery for scoliosis in Duchenne muscular dystrophy
Abstract Background Scoliosis in patients with Duchenne muscular dystrophy (DMD) is usually progressive and is treated with surgery. However, it is unclear whether the existing evidence is sufficiently scientifically rigorous to support a recommendation for spinal surgery for most patients with DMD and scoliosis. This is an updated review, and an updated search was undertaken […]
L-acetylcarnitine for treating fragile X syndrome
Abstract Background People with fragile X syndrome (FXS) have an intellectual dysfunction that can range from very mild to severe. Symptoms can include speech and language delays and behavioural difficulties such as aggression or self injurious behaviours, emotional lability, and anxiety-related problems (for example obsessive-compulsive symptoms and perseverative behaviours). In some cases, affected people may […]
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)
Abstract Background McArdle disease (Glycogen Storage Disease type V) is caused by an absence of muscle phosphorylase leading to exercise intolerance, myoglobinuria rhabdomyolysis and acute renal failure. This is an update of a review first published in 2004. Objectives To review systematically the evidence from randomised controlled trials (RCTs) of pharmacological or nutritional treatments for […]
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes
Abstract Background Hereditary ataxia syndromes can result in significant speech impairment, a symptom thought to be responsive to treatment. The type of speech impairment most commonly reported in hereditary ataxias is dysarthria. Dysarthria is a collective term referring to a group of movement disorders affecting the muscular control of speech. Dysarthria affects the ability of […]
Carnitine supplementation for inborn errors of metabolism
Abstract Background Inborn errors of metabolism are genetic conditions which can lead to abnormalities in the synthesis and metabolism of proteins, carbohydrates, or fats. It has been proposed that in some instances carnitine supplementation should be provided to infants with a suspected metabolic disease as an interim measure, particularly whilst awaiting test results. Carnitine supplementation […]
Physical training for McArdle disease
Abstract Background McArdle disease is a rare metabolic myopathy caused by a complete absence of the enzyme muscle glycogen phosphorylase. Affected people experience symptoms of fatigue and cramping within minutes of exercise and are at risk for acute muscle injury (rhabdomyolysis) and acute renal failure. If the first few minutes of exercise are paced, a […]
Folic acid for fragile X syndrome
Abstract Background It has been argued that individuals with fragile X syndrome could have low folate levels in their bodies and that supplementing their dietary intake might remediate the adverse developmental and behavioural effects of the condition. Objectives To review the efficacy and safety of folic acid in the treatment of people with fragile X […]