Drug treatment for spinal muscular atrophy type I
Abstract Background Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron 1 (SMN1) gene on chromosome 5, or a heterozygous deletion in combination with a point mutation in the second SMN1 allele. This results in degeneration of anterior horn cells, which leads to progressive muscle weakness. By definition, children with SMA […]
Strength training and aerobic exercise training for muscle disease
Abstract Background Strength training or aerobic exercise programmes, or both, might optimise muscle and cardiorespiratory function and prevent additional disuse atrophy and deconditioning in people with a muscle disease. This is an update of a review first published in 2004 and last updated in 2013. We undertook an update to incorporate new evidence in this […]
Assisted standing for Duchenne muscular dystrophy
Abstract Background Duchenne muscular dystrophy (DMD) is the most common X‐linked neuromuscular disorder. When boys with DMD reach the second decade of life, they lose their ability to walk and become wheelchair dependent. Standing devices and orthoses are considered to be an essential component in the therapy management of DMD. Clinical opinion and research from […]
Respiratory muscle training in children and adults with neuromuscular disease
Abstract Background Neuromuscular diseases (NMDs) are a heterogeneous group of diseases affecting the anterior horn cell of spinal cord, neuromuscular junction, peripheral nerves and muscles. NMDs cause physical disability usually due to progressive loss of strength in limb muscles, and some NMDs also cause respiratory muscle weakness. Respiratory muscle training (RMT) might be expected to […]
Interventions for ulceration and other skin changes caused by nerve damage in leprosy
Abstract Background At the end of 2016, 145 countries reported to the World Health Organization (WHO) over 173,000 new cases of leprosy worldwide. In the past 20 years, over 16 million people have been treated for leprosy globally. The condition’s main complications are injuries and ulceration caused by sensory loss from nerve damage. In this […]
Interventions for ulceration and other skin changes caused by nerve damage in leprosy
Abstract available in English Español Français Background At the end of 2016, 145 countries reported to the World Health Organization (WHO) over 173,000 new cases of leprosy worldwide. In the past 20 years, over 16 million people have been treated for leprosy globally. The condition’s main complications are injuries and ulceration caused by sensory loss […]
Genetic testing for prevention of severe drug‐induced skin rash
Abstract Background Drug‐induced skin reactions present with a range of clinical symptoms, from mild maculopapular skin rashes to potentially fatal blistering skin rashes — such as Stevens‐Johnson syndrome (SJS) or toxic epidermal necrolysis (TEN) — which may result in death. Milder reactions may be troublesome and lead to low drug compliance. The pathogenesis of these […]
Interventions for treating neuropathic pain in people with sickle cell disease
Abstract Background Pain is the hallmark of sickle cell disease (SCD) and it can be severe, frequent and unpredictable. Although nociceptive pain is more common, at times, people with SCD may have neuropathic pain. The latter can occur due to peripheral or central nerve injury. This review is focused on identifying treatment of only painful […]
Interventions for treating neuropathic pain in people with sickle cell disease
Abstract Background Pain is the hallmark of sickle cell disease (SCD) and it can be severe, frequent and unpredictable. Although nociceptive pain is more common, at times, people with SCD may have neuropathic pain. The latter can occur due to peripheral or central nerve injury. This review is focused on identifying treatment of only painful […]
Acetyl‐L‐carnitine for the treatment of diabetic peripheral neuropathy
Abstract Plain language summary Acetyl‐L‐carnitine for the treatment of diabetic neuropathy The aim of this review The aim of this review was to assess the effects of acetyl‐L‐carnitine (ALC) on diabetic peripheral neuropathy (DPN) in people with diabetes. We were particularly interested in whether ALC could relieve pain, and also aimed to identify any harmful […]