Mamatha Pasnoor, Saud Khan, Carlayne E. Jackson, John Kissel, Gil I. Wolfe, Sharon P. Nations, Jaya R. Trivedi, Mike A. Singer, Jeffrey L. Elliott, Steven Vernino, Reddiah Babu Mummaneni, Laura Herbelin, David S. Saperstein, Gary Gronseth, April L. McVey, Mazen M. Dimachkie, Richard J. Barohn
{"title":"Database Evaluation for Muscle and Nerve Diseases - DEMAND: An academic neuromuscular coding system","authors":"Mamatha Pasnoor, Saud Khan, Carlayne E. Jackson, John Kissel, Gil I. Wolfe, Sharon P. Nations, Jaya R. Trivedi, Mike A. Singer, Jeffrey L. Elliott, Steven Vernino, Reddiah Babu Mummaneni, Laura Herbelin, David S. Saperstein, Gary Gronseth, April L. McVey, Mazen M. Dimachkie, Richard J. Barohn","doi":"10.17161/rrnmf.v4i4.18495","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.18495","url":null,"abstract":"Background: A database which documents the diagnosis of neuromuscular patients is useful for determining the types of patients referred to academic centers and for identifying participants for clinical trials and other studies. The ICD-9 or ICD-10 numeric systems are insufficiently detailed for this purpose. Objective: To develop a database for neuromuscular diagnoses Methods: We developed a detailed diagnostic coding system for neuromuscular diseases called DEMAND: Database Evaluation for Muscle and Nerve Diseases that has been adopted by neuromuscular clinics at University of Texas Health Science Center San Antonio (UTHSCSA), Ohio State University (OSU), University of Kansas Medical Center (KUMC), and University of Texas Southwestern (UTSW). At the initial visit, patients are assigned a diagnostic code which can be revised later if appropriate. Fields include patient’s name, date of birth, and diagnostic code. The neuromuscular database consisted of 457 codes. Each code has a prefix (MUS or PNS) followed by a three-digit number. Depending on whether muscle or nerve is primarily involved, there are eight broad groups: motor neuron disease (MUS codes 100-139); neuromuscular junction disorders (MUS 200-217); acquired and hereditary myopathies (MUS 300-600s); acquired and hereditary polyneuropathies (PNS 100-400); mononeuropathies (PNS 500s); plexopathies (PNS 600s); radiculopathies (PNS 700s); and mononeuritis multiplex (PNS 800s). Results: During a period of 10 years, 17,163 of patients were entered (1,752 at UTHSCSA, 1,840 at OSU, 3,699 at KUMC, 9,872 at UTSW). The number of patients in several broad categories are: 3,080 motor neuron disease; 1,575 neuromuscular junction disease; 1,851 muscular dystrophies; 633 inflammatory myopathies; 1,090 hereditary neuropathies; 1,001 immune-mediated polyneuropathies; 620 metabolic/toxic polyneuropathies; 535 mononeuropathies; 296 plexopathies; and 769 radiculopathies. Conclusion: A detailed diagnostic neuromuscular database can be utilized at multiple academic centers. The database should be simple without too many fields to complete, to ensure compliance during busy clinic operations. This database has been very useful in identifying groups of patients for retrospective, observational studies and for prospective treatment studies including trials for Amyotrophic Lateral Sclerosis (ALS), Muscular Dystrophies (MD), Myasthenia Gravis (MG), and retrospective studies of Primary Lateral Sclerosis (PLS), chronic inflammatory demyelinating neuropathy (CIDP), etc.","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"95 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135396281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A rare case report of neurolymphomatosis with NK-T-cell lymphoma","authors":"Ruta Savaj, Megha Harke Uppin, Megha Dhamne","doi":"10.17161/rrnmf.v4i4.20277","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.20277","url":null,"abstract":"Neurolymphomatosis (NL) is a rare entity. It is usually a manifestation of B-cell lymphoma. Here we describe a case of neurolymphomatosis in a 72 year old man who was in remission for Nasal T-cell lymphoma and presented to us with subacute onset painful mononeuritis like weakness involving all 4 limbs sequentially over a period of 4 months. he was initially treated as CIDP with steroids but later in view of progression he was evaluated further. His FDG PET-CT showed increased uptake in left brachial plexus which was confirmed by subsequent MRI neurography. He underwent biopsy of left brachial plexus and diagnosis of neurolymphomatosis was confirmed. He was treated with intravenous immunoglobulins (2 gm/kg) over 5 days with minimal improvement in his neurological symptoms, his shoulder pain improved and he could feed himself with right hand. He was offered palliative treatment in view of poor prognosis seen in neurolymphomatosis. He succumbed to the illness 3 months later.","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135395644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Congenital Myasthenic Syndromes","authors":"Ricardo Maselli","doi":"10.17161/rrnmf.v4i3.19633","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i3.19633","url":null,"abstract":"Very few areas of medical genetics have been so profoundly impacted by the advent of next- generation sequencing (NGS) as the field of congenital myasthenic syndromes (CMS). This is due to the formidable genetic heterogeneity of CMS, a dearth of diagnostic clinical clues of CMS types, and the imperative need to establish an accurate molecular diagnosis of CMS type before any medication is started. A molecular diagnosis of CMS is fundamental not only to provide an appropriate therapy, but more importantly, to avoid potential deleterious treatments. Thus, NGS has transformed the tedious and expensive task of searching for causative mutations in an ever-expanding list of genes linked to CMS into an effective, and relatively inexpensive process that can rapidly identify the variant of CMS in question. One of the consequences of this transformation is a paradigm shift in the clinical practice of CMS that no longer requires, with rare exceptions, the use of special muscle biopsies that enable the analysis of the function and ultrastructure of the neuromuscular junction to determine the type of CMS. Another technological advance of recent years is CRISPR/Cas9, which allows genome editing at the zygotic stage, thus greatly simplifying the generation of mouse models carrying the same human CMS mutations in orthologous mouse genes. This permits an in-depth analysis of the pathogenesis and treatments of CMS caused by specific gene mutations. In terms of therapy, in addition to the classical pharmacologic treatments of CMS, including pyridostigmine sulfate, albuterol and 3,4 diaminopyridine, AAV-based gene therapies are now at the preclinical stage for several types of CMS. In this brief review, CMS are classified in six major groups: (1). presynaptic CMS, (2) synaptic CMS, (3) postsynaptic CMS; 4. CMS affecting the agrin-signal transduction pathway, (5) CMS linked to disorders of glycosylation, and (6) CMS associated with abnormalities of the cytoskeleton.","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136243299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Congenital myasthenic syndromes: beta adrenergic receptor agonist treatment","authors":"David Beeson","doi":"10.17161/rrnmf.v4i3.19552","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i3.19552","url":null,"abstract":"Acetylcholinesterase inhibitors, such as pyridostigmine, are the standard symptomatic treatment for myasthenia gravis, and so have naturally been applied to the genetic forms of myasthenia, termed congenital myasthenic syndromes (CMS). Although effective for many CMS in others there was no clear response and in some it was positively harmful. Now, with greater understanding of the mutations and molecular mechanisms underlying CMS, treatments can be tailored for the specific syndrome and depending on diseases severity and patient response this can include utilizing different combinations of the drugs. In CMS, over the last 15-20 years b2-adrenergic receptor agonists have moved from occasional use to a mainstream medication. Many cases show life-transforming improvement both when the b2-adrenergic receptor agonists are used alone or in combination. Here we feature how the identification of DOK7-CMS first highlighted the consistent benefit of b2-adrenergic receptor agonists as medication and how it’s application to many different CMS subtypes evolved. The molecular pathogenic mechanisms for many CMS subtypes are now established and this report will also discuss a hypothetical rationale for which forms of CMS are likely to benefit from the b2-adrenergic receptor agonists.","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"59 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136243302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Letter from the Founding Facilitator for Volume 4, Issue 2","authors":"Richard J. Barohn","doi":"10.17161/rrnmf.v4i2.20945","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.20945","url":null,"abstract":"","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135336683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Letter from the Founding Facilitator for Volume 4, Issue 1","authors":"Richard J. Barohn","doi":"10.17161/rrnmf.v4i1.19496","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i1.19496","url":null,"abstract":"","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"113 8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136251724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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