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Duchenne muscular dystrophy (DMD) is an X-linked recessive, progressive and universally fatal disease in the spectrum of dystrophinopathies,1Â 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 ...
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.1Â Respiratory involvement, characterized by orthopnoea or dyspnoea with exertion, ...
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 ...
Acute hepatic porphyrias are inherited metabolic disorders resulting from a specific enzyme defect in the heme biosynthetic pathway. Acute intermittent porphyria is the most common type and has the most severe presentation.1Â Acute episodes can be triggered by surgery, certain ...
Neuromyelitis optica spectrum disorder (NMOSD) refers to a family of inflammatory central nervous system (CNS) diseases in which patients accrue disability through severe episodes of demyelination with typical manifestations including involvement of visual pathways (e.g., optic neuritis) and spinal ...
Chronic inflammatory demyelinating polyneuropathy (CIDP) is an immune-mediated disorder of the peripheral nervous system, of unknown etiology.1 The condition usually presents as weakness in the arms and legs, balance/gait impairment, tingling, numbness, and loss of tendon reflexes.2–4 It can ...
Myasthenia gravis (MG) is a relatively rare autoimmune disease, caused by an antibody-mediated blockade of neuromuscular transmission and resulting in skeletal muscle weakness. MG is characterised by fluctuating muscle weakness that worsens with activity and improves on resting. Over half ...
Identifying secondary headaches in the emergency room In 2008 alone (according to most recent data), there were over 3 million visits to the emergency room (ER) where headache was the primary complaint, in the US.1 Headache comprised a little over 2% of all ...
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune demyelinating polyradiculoneuropathy characterized by chronically progressive weakness and impaired sensory function in the lower and upper extremities.1 Symptoms, which are progressive over at least 8 weeks, may include weakness of the arms and ...
Therapeutic plasma exchange (TPE) is a valuable technique in peripheral nervous system and neuromuscular diseases: the removal of autoantibodies and immune complexes ensures a rapid onset of action, and the treatment is safe and effective for long-term use. However, the ...
Duchenne muscular dystrophy (DMD) is an X-linked disorder affecting one in 5,000 live male births which makes it the most common and most severe form of muscular dystrophy.1 The absence of the protein dystrophin leads to symptom onset typically between the ...
Report based on Presentations at a Satellite Symposium held at the European Paediatric Neurology Society (EPNS) on 25 September 2013 in Brussels, Belgium At the European Paediatric Neurology Society (EPNS) conference held in Brussels during September 2013, a satellite symposium sponsored by PTC ...
Chronic inflammatory demyelinating polyneuropathy (CIDP) is the most common treatable chronic neuropathy in the western world with a prevalence ranging from one to nine cases per 100,000.1 Typical onset of CIDP is between the ages of 30 and 60 years and presents as ...
Migraine is one of the most prevalent neurological illnesses occurring in approximately 10 % of the US population, with a total prevalence of up to 29.6 % if probable migraine is also considered.1,2 The disorder manifests as episodic pain that is disabling in 50–75 % of ...
Primary Angiitis of the Central Nervous System – Clinical Approaches, Challenges and Controversies
Primary angiitis of the central nervous system (PACNS) fascinates by the multiplicity of its clinical manifestations, the complexity of its investigation, and the extensiveness of its differential diagnosis (see Table 1). Immunosuppressive therapy is central in the management of PACNS, but ...
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a relatively rare immune-mediated polyneuropathy with an overall prevalence of one to three per 100,000 adults.1–3 The clinical diagnosis of CIDP is based on clinical, electrophysiological and cerebrospinal fluid features. A typical CIDP patient has ...
Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system (CNS) with inflammatory demyelinating lesions and neuronal loss that is clinically characterised by unpredictable clinical relapses, remissions and progression of disability over time.1–3 Damage occurs to the myelin ...
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