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59 Possible Causes for Muscular Atrophy, Percussion Myotonia

  • Generalized Myotonia of Thomsen

    On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal.[jnnp.bmj.com] He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy.[books.google.com] Secondary outcomes: (1) clinical relaxation time; (2) electromyographic relaxation time; (3) stair test; (4) presence of percussion myotonia; and (5) adverse events.[cochrane.org]

  • Myotonic Dystrophy

    Percussion myotonia or myotonia of grasp or both is usually present if looked for.[pediatrics.aappublications.org] Neuromuscular disorders like myotonic dystrophy (dystrophia myotonica or Steinert's disease) and spinal muscular atrophy are associated with perioperative complications related[ncbi.nlm.nih.gov] New contributions to the theory of muscular atrophy in supranuclear paralysis especially in cerebral hemiplegia (Habilitationsschrift).[doi.org]

  • Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] Distal muscular dystrophies are a group of inherited primary muscle disorders showing progressive weakness and atrophy preferentially in the hands, forearm, lower legs, or[ncbi.nlm.nih.gov] […] typically elicited by percussion of the thenar eminence with a tendon hammer—‘percussion myotonia’.[doi.org]

  • Paramyotonia Congenita

    They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms.[ncbi.nlm.nih.gov] Muscular atrophy or hypertrophy was not observed. Percussion myotonia of the tongue and thenar muscles could be elicited at room temperature.[ncbi.nlm.nih.gov] The following genes are required for Invitae carrier screening and will be added to your order, CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), FMR1 (fragile X syndrome[invitae.com]

  • Limb-Girdle Muscular Dystrophy

    Patients with myotonic dystrophy type 1 may present subtle myotonia and it may be necessary to search for tenar muscle percussion myotonia 15.[doi.org] atrophy.[ncbi.nlm.nih.gov] […] by Duchenne.1,2 Other descriptions followed: familial atrophy of the pelvic girdle muscles (Leyden in 1876), scapulohumeral muscular atrophy (Erb in 1884), and myopathy with[dash.harvard.edu]

  • Congenital Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy[ncbi.nlm.nih.gov] atrophy, forms of Ehlers-Danlos syndrome, and Marfan syndrome (see these terms).[orpha.net]

  • Myoadenylate Deaminase Deficiency

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] The diagnoses in the 13 patients were: polyneuropathy (n 5), infantile spinal muscular atrophy (n 3), congenital myopathy with type 2 fibre atrophy, facioscapulohumeral myopathy[ncbi.nlm.nih.gov] […] on hands, brachial biceps and deltoids (triggered by percussion), and difficulty in starting gait due to myotonia.[scielo.br]

  • Muscular Fasciculation

    Myokymia, muscle hypertrophy and percussion "myotonia" in chronic recurrent polyneuropathy. Neurology . 1978 Nov. 28(11):1130-4. [Medline] .[emedicine.medscape.com] March 10, 2015 ; 84 (10) Resident and Fellow Section First published March 9, 2015, DOI: Spinal muscular atrophy (SMA) is a heterogeneous, autosomal-recessive neuromuscular[n.neurology.org] Serious conditions that cause muscle deterioration like muscular dystrophy or muscular atrophy also cause fasciculation of the muscles. 1 Answer A Symptoms of fasciculation[sharecare.com]

  • Charcot-Marie-Tooth Disease Type 2S

    The unusual clinical features of CMTD were associated with fasciculation, cramps, myokymia, impaired muscular relaxation and percussion myotonia with their electromyographic[wikigenes.org] atrophy with respiratory distress (sequence analysis of IGHMBP2 gene) Charcot-Marie-Tooth disease (disease exome based NGS panel for 43 genes) Spinal muscular atrophy (NGS[cgcgenetics.com] Neuropathy With Respiratory Failure Spinal Muscular Atrophy With Respiratory Distress 1 Spinal Muscular Atrophy, Diaphragmatic DSMA1 DHMN6 HMN VI HMN6 SIANRF SMARDI 604320[ukgtn.nhs.uk]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1B

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] This disease is characterized by the coexistence of a slowly progressive muscular atrophy and weakness involving the proximal parts of the limbs (scapular and pelvic) and[link.springer.com] ATROPHIES & MOTOR NEURON DISEASES Spinal muscular atrophy, type I-IV (SMN1) Spinal muscular atrophy, autosomal dominant, proximal, adult-onset (VAPB) Spinal muscular atrophy[meduniwien.ac.at]

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