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]

They have a varied presentation and progression and very few studies have addressed the natural history. Aim of the present study is to describe the clinical profile and natural history of patients with CMS. [annalsofian.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]

Some patients may present with only ptosis whereas others may present with severe generalised myasthenia [62]. [ojrd.biomedcentral.com]

In the initial report, cases presented with ptosis, weak cry, and generalized weakness. [pediatricneurologybriefs.com]

• Weakness

  Clinical features are easy fatigability and muscle weakness. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. [uniprot.org]

  Weakness is more marked in proximal muscles and isolated weakness of limb muscles is the presenting feature in a minority of patients. Weakness of the following muscles may also be seen: Small muscles of the hands (finger extensors). [patient.info]

  The common feature of CMS is a defect in the neuromuscular junction with exercise-induced weakness of skeletal muscle. In the initial report, cases presented with ptosis, weak cry, and generalized weakness. [pediatricneurologybriefs.com]

  Like myasthenia gravis (MG), CMS is characterized by weakness and fatigue resulting from problems at the neuromuscular junction — the place where nerve and muscle cells meet (see illustration at right). [mda.org]

  They are characterized by fatigable muscle weakness. We performed linkage analysis, whole-exome and whole-genome sequencing to determine the underlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness. [ndcn.ox.ac.uk]

• Surgical Procedure

  In some patients, a myasthenic disorder is suspected only when they develop prolonged respiratory arrest on exposure to a neuromuscular blocking agent drug during a surgical procedure. [rarediseases.org]

• Skin Disease

  & Research Clinical Trials Funded by Members Clinical Trials Funded by Lysogene Clinical Trials Funded by the National Center for Advancing Translational Sciences Clinical Trials Funded by the National Institute of Arthritis and Musculoskeletal and Skin [irdirc.org]

  Alone or in combination, mutations in plectin can result in a blistering skin disease known as epidermolysis bullosa simplex (EBS), in progressive muscular dystrophy, and sometimes in a myasthenic syndrome. [rarediseases.org]

• Muscle Hypotonia

  ALG2 mutations result in severely reduced expression of ALG2 in muscle [108]. Phenotypically, ALG2 mutations manifest with infantile onset proximal muscle weakness, hypotonia, delayed motor milestones, and contractures [108]. [ojrd.biomedcentral.com]

• Stroke

  Older Children E-1849 105 Disorders of Intracranial Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke [books.google.de]

  Paulson serves on the scientific advisory boards of numerous disease-related national organizations, and is past-Chair of the Board of Scientific Counselors at the National Institute for Neurological Disorders and Stroke at the National Institutes of [books.google.it]

  Funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases Clinical Trials Funded by the National Institute of Child Health and Human Development Clinical Trials Funded by the National Institute of Neurological Disorders and Stroke [irdirc.org]

• Headache

  Symptoms indicative of nocturnal hypoventilation include daytime headache, restless sleep, impaired concentration, snoring, recurrent respiratory infections, or weight loss [6]. [ojrd.biomedcentral.com]

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]

Ifyou are responding to treatment, then you would continue in the study (day 1). 3. [globalgenes.org]

". [6] Treatment depends on the form (category) of the disease. [en.wikipedia.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]

Prognosis The prognosis is often difficult to assess. [2] It is largely determined by the presence and type of any underlying cancer, the presence and severity of any associated autoimmune disease, and the severity and distribution of weakness. [emedicine.medscape.com]

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]

Etiology For many years, clinical observations suggested an autoimmune etiology for LEMS. [emedicine.medscape.com]

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]

Since the field of CMSs is steadily expanding, the present review aimed at summarizing and discussing current knowledge and recent advances concerning the etiology, clinical presentation, diagnosis, and treatment of CMSs. [ojrd.biomedcentral.com]

Epidemiology United States statistics The true incidence of LEMS is unknown. An estimated 3% of patients with SCLC have LEMS. The prevalence of SCLC is 5 cases per million population in the United States. [emedicine.medscape.com]

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]

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 [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]

Pathophysiology Physiologic studies of neuromuscular transmission demonstrate that ACh release from the motor nerve terminal is impaired in the LEMS muscle. [emedicine.medscape.com]

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]

Molecular confirmation of a clinical diagnosis may: identify the associated health conditions for which an individual should be monitored; guide proper therapeutic interventions; and reduce healthcare costs by preventing a lengthy diagnostic odyssey. [egl-eurofins.com]

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]

• 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]