Electrodiagnosis is not necessary if the clinical phenotype is present and genetic tests confirm the diagnosis. [now.aapmr.org]

Thymomas are cited to be present in 20% of patients with a CASPR2 antibody [3]. [karger.com]

Myasthenia Gravis: Usually fatigable diplopia and ptosis are present. [practicalneurology.com]

The present report describes this syndrome in a patient with myotonic muscular dystrophy. [jamanetwork.com]

A 17-yr-old Hispanic female presented for evaluation of bilateral lower-extremity hypertrophy and muscle twitching. The patient’s symptoms began approximately 5 yrs before presentation, with muscle twitching and cramps. [journals.lww.com]

• Lymphadenopathy

  […] amide hydrochloride has been used widely to treat cardiac arrhythmia during the past 15 years,1 and it is also useful in the treatment of myotonia.2,3 There have been reports of minor side effects (fever, rash, arthralgia, chills, headache, myalgia, lymphadenopathy [jamanetwork.com]

• Muscle Twitch

  Clinical neuromyotonia is a syndrome of persistent muscle stiffness, delayed muscle relaxation, and continuous muscle twitching due to abnormal electrical discharges of motor nerves. [medlink.com]

  A 17-yr-old Hispanic female presented for evaluation of bilateral lower-extremity hypertrophy and muscle twitching. The patient’s symptoms began approximately 5 yrs before presentation, with muscle twitching and cramps. [journals.lww.com]

  Common manifestations of IS are muscle twitching, stiffness hypertrophy, and dysautonomia [Ahmed and Simmons. Muscle Nerve. 2015;52(1):5–12]. [karger.com]

  They can test you for related conditions and help you manage symptoms such as muscle twitching and stiffness. [my.clevelandclinic.org]

• Platyspondyly

  The skeletal findings are short stature, pectus carinatum, kyphoscoliosis, platyspondyly with coronal clefts in the vertebrae, metaphyseal and epiphyseal dysplasias, and joint contractures. [bmcneurol.biomedcentral.com]

• Long Narrow Face

  narrow face Hollowed cheeks, and high arched palate Ptosis Sternocleidomastoid muscle atrophy Clinical myotonia: classically manifests as difficulty releasing a handshake Daytime somnolence, impaired sleep Dysphagia, dysarthria Respiratory involvement [www-amboss-com.db.rsu.lv]

There was no evidence of malignancy in our case despite an extensive oncological workup. [karger.com]

Careful examination with prolonged eccentric gaze should be performed to achieve a correct diagnosis and avoid an extensive unnecessary workup. PMC Free PDF PMC Free Full Text FREE Publisher Full Text New Search Next [unboundmedicine.com]

Diagnostic workup should be considered even if patients are taking medications with known myotonia-aggravating potential as they can unmask an underlying disease. Cataracts and diabetes at a young age should prompt consideration. [now.aapmr.org]

Management and Treatment How is myotonia treated? Treatments for myotonia are specific to each type: Dystrophic myotonias Treatment of dystrophic myotonias depends on the symptoms. [my.clevelandclinic.org]

By way of contrast, we also describe a patient with chronic SLE who received the drug with no deleterious effect in the treatment of an unusual intercurrent myotonic disorder. Report of Cases CASE 1. [jamanetwork.com]

[…] that could possibly respond to treatment in a drug study. [clinicaltrials.gov]

The symptoms of IS are lifelong, but they are manageable with treatment. This article discusses the symptoms, causes, and treatments for IS. [medicalnewstoday.com]

Treatment is also not only beneficial but also enjoyable and includes: Muscle stretching to help lengthen tight muscles and reduce stiffness. Warming up exercises to help control muscle cramps. [physio.co.uk]

Read More Read Less Prognosis Prognosis There is no cure for Isaacs' syndrome. The long-term prognosis for individuals with the disorder is uncertain. Clinical Trials Clinical Trials [ninds.nih.gov]

What is the prognosis? There is no cure for Isaac's syndrome. The long-term prognosis for individuals with the disorder is uncertain. [medic8.com]

Prognosis [ edit ] The long-term prognosis is uncertain, and has mostly to do with the underlying cause; i.e. autoimmune, paraneoplastic, etc. [en.wikipedia.org]

Little research is being done on this disease, so the long-term prognosis for individuals with the disorder is uncertain. Visit Forum [autoimmunesociety.org]

Cases of severe denervation of any etiology.8 The rest of this article will focus on the true primary myotonic disorders. [now.aapmr.org]

The prognosis is solely dependent upon the underlying etiologies. Myokymia is considered benign when detected in patients after strenuous exercise. Prognosis Prognosis is related directly to the underlying etiology. [emedicine.medscape.com]

Pain, proptosis, periorbital swelling, lid lag/retraction and pupil involvement are not symptoms of CPEO and indicate a different etiology. [eyewiki.aao.org]

It contains detailed illustrations of each nerve along with a discussion of its anatomy, followed by a thorough outline of the clinical conditions and entrapment syndromes that affect the nerve, including a list of the etiologies, clinical features, and [books.google.es]

Dystrophic myotonic syndromes Etiology Autosomal dominant inheritence Type 1: CTG trinucleotide repeat expansion in the DMPK gene → changes in myotonin protein kinase expression Type 2: CCTG tetranucleotide repeat expansion of the ZNF9 gene (CNBP gene [www-amboss-com.db.rsu.lv]

ISAAC, The I nternational S tudy of A sthma and A llergies in C hildhood, is a unique worldwide epidemiological research programme established in 1991 to investigate asthma, rhinitis and eczema in children due to considerable concern that these conditions [isaac.auckland.ac.nz]

Asthma: Epidemiology, etiology and risk factors. CMAJ. 2009; 181(9):E181-E190. DOI: http://dx.doi.org/10.1503/cmaj.080612 [ Links ] 3. British Thoracic Society, Scottish Intercollegiate Guidelines Network. [scielo.org.mx]

Epidemiology Frequency Although myokymia can be seen in patients with different neurological and medical conditions and occasionally even in healthy subjects, it is a relatively rare clinical manifestation. [emedicine.medscape.com]

Summary Epidemiology Prevalence is unknown. [orpha.net]

Further epidemiological studies can reveal underdiagnosed myotonias in Colombia and the Latin-American region. [dovepress.com]

ECG: to exclude cardiac arrhythmias and other abnormalities MRI: signs of global atrophy Nondystrophic myotonic syndromes Differential diagnoses Overview of myotonic syndromes Comparison of myotonic syndromes and muscular dystrophies [1] Types Onset Pathophysiology [www-amboss-com.db.rsu.lv]

Differential diagnosis of IS Although the pathophysiology of IS involves the dysfunction of VGKCs by autoantibodies resulting in potassium-ion imbalance that leads to symptoms of muscular hyperexcitability, this case highlights the question of how neuropathic [karger.com]

Pathophysiology The clinical phenomenon is characterized by its classic quivering movement of the involved muscle without movement of the joint. Myokymia can be seen in muscles innervated by cranial or spinal nerves. [emedicine.medscape.com]

First, since the likelihood of cardiac and muscular channelopathies occurring together in patients is extremely low, given their rare prevalence in the general population, a pathophysiological link between CLCN1 mutations and cardiac arrhythmias can be [frontiersin.org]

The pathophysiology has been poorly understood, and there have been only limited descriptions of factors that exacerbate or improve this disease [94]. Histologically and clinically it often resembles SCC. 10.1097/01.IOP.0000155509.54813.93. [lorientalspa.ma]

Sudden movement can also cause muscle stiffness and cramping so warming up before exercise with low-intensity movements can help prevent severe attacks of myotoniacongenita. [physio.co.uk]

Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. [medlineplus.gov]

[…] either hereditary or acquired from another condition, it cannot be prevented. [ukhealthcare.uky.edu]