myotonia/inflammatie

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The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis.

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Electrical myotonia is known to occur in a number of inherited and acquired disorders including myotonic dystrophies, channelopathies, and metabolic, toxic, and inflammatory myopathies. Yet, electrical myotonia in myasthenia gravis associated with antibodies against muscle-specific tyrosine kinase

Myotonia, a new inherited muscle disease in mice.

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Electromyographic (EMG) and histological studies were carried out with the new mouse mutant myotonia (mto, autosomal recessive). Affected animals exhibited behavioral myotonia which was apparent at 2 weeks of age. EMG studies revealed myotonic discharges (prolonged repetitive discharges with

Use of Clinical and Electrical Myotonia to Differentiate Childhood Myopathies.

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We retrospectively reviewed 2030 childhood electromyograms performed over an 11-year period (2004-2014). Twenty children (1%) with myotonic discharges were identified and placed into 2 groups. Group A (electrical and clinical myotonia) comprised 9 children (8 with myotonia congenita and 1 with

[Non-inflammatory muscle pain]

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Muscle pain as a common symptom in daily practice frequently occurs as a non-specific accompanying symptom in multiple internal and neurological diseases. Primarily inflammatory or autoimmune muscular diseases are causing muscle pain. However, a number of non-inflammatory causes of pain can also be

Abnormal spontaneous electrical activity and gross enlargement of muscle.

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In a patient with congenital hypertrophy of the right leg, there developed progressive enlargement of the extremity and inflammatory pseudotumor and electrical myotonia within the enlarged muscle. In three other reported cases, progressive muscle enlargement was associated with abnormal spontaneous

Steinert syndrome and repercussions in dental medicine.

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Steinert syndrome, also called myotonic dystrophy type 1, is a genetic disorder with autosomal dominant transmission characterized by myotonia and a multisystemic clinical picture that affects several tissues of the human body. The most common systemic phenotypes are: muscular, cardiac, respiratory,

[The value of in-vivo 31-phosphorus spectroscopy in the diagnosis of generalized muscular diseases. The clinical results and the differential diagnostic aspects].

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OBJECTIVE In a prospective study, characteristics and the diagnostic potential of in vivo 31-phosphorus spectroscopy in cases of generalised muscle diseases were analysed. METHODS 41 patients with myogenic and neurogenic muscle diseases and 11 healthy volunteers were examined using MRI and in vivo

[Diagnosis of a myopathic disease in adult].

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Strategy for the diagnosis of a muscle weakness includes two steps: to rely the weakness to a muscular origin and to find the aetiology. A muscular deficit is purely motor, without sensory signs, involving mainly axial and proximal muscles. The essential informations for aetiological

Current pharmacologic management in selected neuromuscular diseases.

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For generations, the neuromuscular disorder care community has focused on establishing the correct diagnosis and providing supportive care. As the pathophysiology and genetics of these conditions became better understood, novel treatments targeting the disease mechanism were developed. This has led

[Nuclear magnetic resonance tomography in the diagnosis of muscular diseases].

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Forty-nine patients with various systemic muscle diseases were examined by MR using a 1 Tesla magnet and the appearances of different conditions are analysed. Emphasis was placed on the analysis of patients with progressive muscular dystrophies, myositis, myotonia dystrophica and other muscle

The stiff-man syndrome and related disorders.

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The stiff-man syndrome (SMS) is characterised by rigidity and spasm of predominantly axial and proximal limb muscles. The cause of the condition is unknown but the finding of antibodies to glutamic acid decarboxylase (GAD) in approximately 60% of patients has suggested an autoimmune basis.

Macrophagic myofasciitis in childhood: the role of scanning electron microscopy/energy-dispersive spectroscopy for diagnosis.

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Macrophagic myofasciitis (MMF) is an inflammatory myopathy related to aluminum-containing vaccines. Described in 1998, most cases were reported in adults, with only 22 cases being reported in children. Three children aged between 13 months and 3(1/2) years were investigated in our institution for

[Diagnostic value of muscle biopsy in neuromuscular diseases].

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Aside from clinical electrophysiology, muscle biopsy is an important method regarding the diagnosis of neuromuscular diseases. Functional disturbances like myasthenia, myotonia, or paramyotonia only lead to slight and unspecific morphological alterations of the muscle tissue. In most cases,

Myalgia in myositis and myopathies.

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Myalgia is a common symptom of various neuromuscular disorders: myalgia occurs in metabolic muscle diseases, inflammatory muscle diseases, dystrophic myopathies and myotonic muscle disorders. Myalgia leads to a significantly reduced quality of life. Other muscular symptoms that are present along

[Pseudohypertrophic myopathy caused by cysticercosis. Report of a case].

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A 25 years old woman was admitted with a history of apparent hypertrophy of the calves, specially on the left, slight pain in the legs and difficulty in walking. Electromyography showed giant motor unit potentials with complete interference pattern. Biopsy of both gastrocnemii was performed

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