نتایج جستجو برای: nondystrophic myotonia

تعداد نتایج: 1472  

Journal: :Proceedings of the Royal Society of Medicine 1910

Journal: :JAMA: The Journal of the American Medical Association 1913

Journal: :Neurology Bulletin 1909

Journal: :Proceedings of the Royal Society of Medicine 1924

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 2003

Journal: :Neurology 2013
Evelyn Brandt-Wouters Sylvia Klinkenberg Vincent Roelfsema Ieke B Ginjaar Catharina G Faber Joost Nicolai

An 11-month-old girl presented with episodic severe stridor from birth, often resulting in cyanosis. Her parents had noted recurrent unilateral ptosis. Later she developed spasms of her hands during exercise. Psychomotor development was normal. Neurologic examination showed generalized hypertonia. Cerebral MRI excluded a Chiari malformation. Laryngoscopy under general anesthesia showed no abnor...

Journal: :Arquivos de neuro-psiquiatria 2014
Leonardo Ferreira Caixeta Giane Souza Reis Ana Caroline Marques Vilela

A 57-year-old woman presented with a 4-years history of progressive weakness, distal muscular atrophy and myotonia in left hand (Figure 1). Her electromyography had a myotonic pattern. Patient was first diagnosed as paraneoplasic limbic encephalitis based on her brain MRI (Figure 2). Diagnosis was genetically confirmed for myotonic dystrophy type 1 (DM1). DM1 or Steinert’s disease is an autosom...

Journal: :European Medical Journal Neurology 2022

Non-dystrophic myotonias (NDM) are rare muscle disorders caused by mutations in skeletal voltage-gated channels leading to delayed relaxation after voluntary contraction. They subdivided into sodium channelopathies, when the mutation is SCN4A gene, and chloride CLCN1 gene. Symptoms, which may differ according subtype, exacerbating factors, over disease course, can include stiffness, pain, fatig...

Journal: :Medical History 1968
J Johnson

Virgin's role in the story is that of a mother who uses medicine to treat her child,28 her selection of a remedy recommended by the most prominent medical authorities could scarcely have been more appropriate. The cure would still have been considered a miracle, although based on medical principles. Moreover, by using this device, Chaucer would have appealed to the intellectual capacities of hi...

2017
Rohit Pai Suhail Khan

Myasthenia gravis and myotonic dystrophy do not usually coexist; however, we present a rare case where both conditions coexisted. Herein, we describe a 34-year-old woman who presented with symptoms of myasthenia gravis with coexisting myotonic dystrophy. She complained of limb weakness, difficulty in chewing and swallowing, and ptosis. She also had myotonia. The patient’s brother also had simil...

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