In the originally published article there was an error in Table 4. The efficacy of patisiran was incorrectly given as “mNIS+7: 80.9 versus 74.6 with placebo; Norfolk QOL-DN: 59.6 versuss 55.4”; this should read “mNIS+7: 34 points better than placebo; Norfolk QOL-DN: 21.1 points better than placebo”. The “Concerns” of patisiran should also read “Local extravasation may cause irritation”. This has been corrected online, and Table 4 has been corrected below.
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Duchenne muscular dystrophy (DMD) is an X-linked recessive, progressive and universally fatal disease in the spectrum of dystrophinopathies,1 with an incidence of 21.4 patients in 100,000 live male births worldwide.2,3 Historically, patients with DMD would lose ambulation by the age of 10 due to muscle weakness and die by the age of 20 from respiratory failure […]
Highlights Limb–joint contractures may represent an important clinical clue of muscle dystrophies, as they limit the spectrum of the diagnosis assumptions. Limb–girdle muscular dystrophies phenotype can rarely be a clinical presentation of retractile myopathies, except for non-specific Achilles ...
Hirayama disease (HD) is a lower motor neurologic disorder that manifests in young males in their early 20s, manifesting with gradually progressive weakness and wasting of C7-T1 innervated muscles. Dynamic magnetic resonance imaging (MRI) clinches the diagnosis, and treatment ...
Background for molecular-based therapy for spinal muscular atrophy Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease and the most common cause of infant death worldwide, with an incidence of 1:10,000 live births and carrier frequency of 1:50.1 This disease, caused ...
Myasthenia gravis (MG) represents the major and most frequent primary disorder of the neuromuscular junction. Clinical hallmarks are variable and include exercise-induced weakness involving extraocular, bulbar, limb and/or axial muscles.1 Respiratory involvement, characterized by orthopnoea or dyspnoea with exertion, ...
Welcome to the latest edition of touchREVIEWS in Neurology, which features a diverse range of topical articles covering therapeutic areas relevant to neurologists and other practitioners involved in the care of patients with neurological illness. We begin with an editorial ...
Myasthenia gravis (MG) is an autoimmune disorder caused by autoantibodies against the myoneural junction, which lead to impaired neuromuscular transmission. These antibodies act at the post-synaptic membrane, commonly against the nicotinic acetylcholine receptor (AChR) but in some cases, antibodies to ...
Welcome to our new issue of touchREVIEWS in Neurology. This journal aims to review a wide range of topical subjects in the field of neurology. Articles have been chosen for their evaluation of current practices and research, and their discussion ...
Welcome to touchREVIEWS in Neurology, our newly-named journal, previously US Neurology. The decision to expand the scope of the journal was taken after an excellent year for touchNEUROLOGY. We feel that in an increasingly global research community, submissions were limited ...
Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired progressive sensorimotor neuropathy of the peripheral nerves and nerve roots that appears to be immune-mediated by both the cellular and humoral immune systems. It is caused by chronic damage to the myelin ...
Botulism is an extremely rare paralytic illness caused by neurotoxins produced by the bacterium Clostridium botulinum.1 While much less common, botulism can result from infection by C. butyricum and C. baratii as well.1 Found in soils and sediments worldwide, C. ...
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that displays heterogeneous age of onset, symptoms, and progression.1,2 The disease presents clinically with upper and lower motor neuron features.3 There is no definitive test or assay that can be used ...
Hereditary transthyretin amyloidosis (hATTR) is a progressive life-threatening disease that typically presents as progressive sensorimotor polyneuropathy, restrictive cardiomyopathy, or a combination of both.1 Patients with hATTR-associated polyneuropathy (hATTR-PN) typically require assistance walking after 5–6 years, and die within 7–10 years from the ...
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