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Congenital Myasthenic Syndrome 14

CMS


Presentation

  • He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present).[books.google.de]
  • Acronym CMS14 Synonyms CMSTA3 Myasthenic syndrome, congenital, 14, with tubular aggregates Myasthenic syndrome, congenital, with tubular aggregates, 3 Keywords Any medical or genetic information present in this entry is provided for research, educational[uniprot.org]
  • His research focuses on understanding the variation in the clinical presentations of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) and finding biomarkers for them.[books.google.de]
  • Symptoms can vary greatly from person to person and not all will be present or experienced in the same way. Fatigue is a common characteristic.[musculardystrophyuk.org]
  • Clinical presentation  Suspected in any person presenting with  Fatigable ocular  Bulbar  Limb weakness during infancy or early childhood  With a positive family history(autosomal recessive except slow channel) 28.  Response to cholinesterase inhibitors[slideshare.net]
Freckles
  • I have brown hair, brown eyes, and lots of freckles. But I'm anything but ordinary. I have Congenital Myasthenic Syndrome. You're probably thinking, "Well okay, sure, but what is that?" CMS is a form of Muscular Dystrophy.[cmskyla.blogspot.com]
Neurologic Manifestation
  • Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric[books.google.de]
Nasal Speech
  • Sometimes there are distinctive facial features such as a prominent lower jaw, high arched palate and crowded teeth (maloclusion), droopy eyes when tired, reduced eye movement with occasional double vision and unclear or nasal speech.[musculardystrophyuk.org]

Workup

  • For developmental delay, she has been evaluated by the Pediatric Neurology and Medical Genetics units and her workup is as follows: Tandem Mass Spectrometry (TMS), urine Gas Chromatography–Mass Spectrometry (GC-MS), Microarray Comparative Genomic Hybridization[degruyter.com]

Treatment

  • Ifyou are responding to treatment, then you would continue in the study (day 1). 3.[globalgenes.org]
  • Treatments for CMS Autosomal recessive inheritance CMS Type Affected Genes Treatment AChR Deficiency - postsynaptic CHRNA1, CHRNB1, CHRND, CHRNE Pyridostigmine, 3,4-DAP, Salbutamol* / Ephedrine* RAPSYN CMS - postsynaptic RAPSN Pyridostigmine, 3,4-DAP[myaware.org]
  • In some rare cases, there is no treatment that helps. Some will need life-long medication to maintain muscle strength. In some instances, body strength may improve with treatment, but eyelid droop and eye movements do not.[musculardystrophyuk.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • They’re pursuing better drug treatments, and eyeing techniques to fix or replace the underlying genetic defects by gene therapy. For more, see Research.[mda.org]

Prognosis

  • Congenital myasthenic syndromes: Natural history and long-term prognosis. Ann Indian Acad Neurol 2013;16:338-41 How to cite this URL: Jagtap SA, Abraham K, Sarada C, Nair M D. Congenital myasthenic syndromes: Natural history and long-term prognosis.[annalsofian.org]
  • Prognosis Treatments have improved over a period of 30 years, leading to significantly fewer deaths and better quality of life [ 23 ].[patient.info]
  • […] of the clinical aspects of the congenital myasthenic syndromes, describes their historical aspects and current classification, summarizes general and specific features of the different disorders, and considers their pathophysiology, pathogenesis, and prognosis[medlink.com]
  • Prognosis in CMS is variable and largely depends on the pathophysiological and genetic defect. Subtypes showing progression and life-threatening crises with apneas are generally less favorable than others.[link.springer.com]
  • ., Congenital myasthenic syndromes: Natural history and long-term prognosis, Ann. Indian Acad.[degruyter.com]

Etiology

  • CMS diagnosis typically depends on a combination of factors, including clinical presentation, family history, genetic etiology, negative anti-ACh and anti-MuSK serum studies, and decremental electromyographic findings (PMID: 23622369).[invitae.com]
  • The recent explosion of genetic associations in ASD research has highlighted the diversity of the disorder’s etiology [14,15].[oatext.com]

Epidemiology

  • Epidemiology The incidence ranges from 0.3 to 2.8 per 100,000. It is estimated to affect more than 700,000 people worldwide [ 1 ]. The prevalence of MG in the UK is estimated at about 15 per 100,000 population [ 4 ].[patient.info]
  • […] advocacy organizations in the field of rare diseases Rare Disease Day 2018 was a success IRDiRC released its roadmap for 2018 Addressing challenges in the diagnosis and treatment of rare genetic diseases Spotlight on the second edition of “Rare Diseases Epidemiology[irdirc.org]
Sex distribution
Age distribution

Pathophysiology

  • April 06, 2015 ; 84 (14 Supplement) April 21, 2015 Jorge Bevilacqua , Marian Lara , Jorge Díaz , Ricardo Maselli First published April 8, 2015, Abstract OBJECTIVE: To describe the clinical features, the genetic findings and the underlying pathophysiology[n.neurology.org]
  • This article provides an overview of the clinical aspects of the congenital myasthenic syndromes, describes their historical aspects and current classification, summarizes general and specific features of the different disorders, and considers their pathophysiology[medlink.com]
  • Prognosis in CMS is variable and largely depends on the pathophysiological and genetic defect. Subtypes showing progression and life-threatening crises with apneas are generally less favorable than others.[link.springer.com]
  • The disease manifestations differ according to the time of its onset and the underlying neuromuscular pathophysiology [ 3 ].[degruyter.com]

Prevention

  • If diagnosed early, CMS can be treated and prevented to some extent with medication. Almost all children with CMS will be able to walk independently and it does not affect intellect in any way.[musculardystrophyuk.org]
  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.de]
  • Clinical trials Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease. Congenital myasthenic syndromes care at Mayo Clinic Nov. 19, 2016 References Engel AG, et al.[mayoclinic.org]
  • . • Identification of the clinical, physiologic, and molecular features of the congenital myasthenic syndromes is relevant to diagnosis, prevention, and therapy. • To date, no fewer than 30 genetically distinct congenital myasthenic syndromes have been[medlink.com]
  • .  Immediate treatment of respiratory distress  Prevention of infections and of malnutrition as a result of swallowing disorders  Orthopaedic surveillance of spinal complications and retractions 33.  Cholinesterase inhibitors are efficient in all[slideshare.net]

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