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Isaac Syndrome

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Presentation

  • Myokymia may present in a number of neurological disorders involving muscle paralysis.[checkorphan.org]
  • 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]
  • Peripheral Nerve Hyperexcitability Disorders Disorder Symptoms and Clinical Evaluation Findings Isaacs syndrome Muscle cramps, fasciculations, myokymia, pseudomyotonia, and hyperhidrosis 14 Morvan syndrome Similar physical presentation to Isaacs syndrome[jaoa.org]
  • December 01, 1979 ; 29 (12) brief communication An unusual presentation of myokymia D. L. Jackson , S. Satya-Murti , L. Davis , D. B.[neurology.org]
Excessive Daytime Sleepiness
  • DM1: Excessive daytime sleepiness, gastrointestinal symptoms, endocrinopathies most commonly diabetes, hypothyroidism and hypogonadism, restrictive lung disease, a malignant hyperthermia-like reaction to anesthesia, cancer, and, in some, mild cognitive[now.aapmr.org]
Abdominal Pain
  • pain, diarrhea, bloating, and dysphagia8 that can be seen in patients with myotonia.[now.aapmr.org]
Ptosis
  • DM1: Characteristic facial appearance with frontal balding, atrophy in the temporal muscles, ptosis and tented upper lip. Distal muscles are more affected. There is often a “warm up” phenomenon where myotonia improves with repeat activation.[now.aapmr.org]
Quickening
  • Phenytoin and carbamazepine were in common use, which had hepatic enzyme- inducing effect and could quicken metabolism and shorten acting time of many drugs, e.g. vecuronium8, 9.[academic.oup.com]
Muscle Twitch
  • The sine qua non is myokymia—continuous muscle twitching described as bag-of-worms movements.[merckmanuals.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]
  • It is caused by rapid bursts of nerve impulses, resulting in muscle twitching, cramping, increase sweating and delayed muscle relaxation. In very few cases speech and breathing may be affected if pharyngeal or laryngeal muscles are involved.[drthindhomeopathy.com]
  • Marcelo ***@**** I've had muscle twitching for more than 2 years with joint pain, not much muscle cramping, mornings suck. My biggest concern are the tongue fasiculations.[medhelp.org]
Carpopedal Spasm
  • Other symptoms include fasciculations, carpopedal spasms, intermittent cramps, increased sweating, and pseudomyotonia (impaired relaxation after a strong muscle contraction but without the typical waxing-and-waning electromyography [EMG] abnormality of[merckmanuals.com]
Cognitive Deficit
  • This approach emphasizes the importance of looking at the other functional impacts of these manifestations (e.g. cognitive deficits secondary to depression, orthodopaedic ambulation issues).[books.google.com]
  • Cognitive deficits, when present, are generally mild. Clinical Functional Assessment Difficulty with ambulation, climbing stairs, 11 manual dexterity, opening or closing eyelids 11 and releasing a handshake, which can be socially embarrassing.[now.aapmr.org]
Slurred Speech
  • speech •Difficulty chewing and swallowing •Prophylactic treatment (immunosuppressive medications, anticonvulsants) •Surgery for tumor.[drthindhomeopathy.com]
Absent Deep Tendon Reflex
  • The patient, a thirty-three year-old male, presented with a two-year history of prominent, somewhat stiff muscles, intermittent myokymia in the thenar and calf muscles during waking, as well as sleep, absent deep tendon reflexes, and glove-and-stocking[remarkablemedicine.com]
Babinski Sign
  • Neurological examination revealed spastic paraparesis, diffuse hyper-reflexia, bilateral achillean clonus, Hoffman and Babinski signs, fasciculations in proximal and distal leg muscles.[link.springer.com]

Workup

  • 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]
  • Careful examination with prolonged eccentric gaze should be performed to achieve a correct diagnosis and avoid an extensive unnecessary workup.[unboundmedicine.com]
  • Translation into Practice and Clinical Pearls: A diagnostic workup should be considered even in patients who are taking medications with known myotonic potential as drugs can unmask an underlying disease. 5 Presence of cataracts at a young age should[now.aapmr.org]
Muscle Biopsy Abnormal
  • Muscle biopsy abnormalities are more common in dystrophic myopathies compared to more variable findings in nondystrophic myotonia, including normal, myopathic or hypertrophied muscles.[now.aapmr.org]

Treatment

  • Therefore, the study will have three groups, with a total of 1,864 patients, as follows: patients with an AHI 15 h-1 will be randomized to CPAP treatment (Group 1) (n 632) or conservative treatment (Group 2) (n 632).[clinicaltrials.gov]
  • The acquired form occasionally develops in association with peripheral neuropathies or after radiation treatment, but more often is caused by an autoimmune condition.[ninds.nih.gov]
  • Medical Streams I Tried and Tested As I navigated first the diagnoses and then the treatment for Isaac Syndrome, I kept my mind open to all streams of treatment. I have listed below the fields I tried and tested with varying degrees of success.[m.dailyhunt.in]
  • There is no cure or specific treatment for this disorder. However, treatments for some of the symptoms are available.[autoimmunesociety.org]
  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.com]

Prognosis

  • Prognosis There is no cure for Isaacs' syndrome. The long-term prognosis for individuals with the disorder is uncertain. x Prognosis There is no cure for Isaacs' syndrome. The long-term prognosis for individuals with the disorder is uncertain.[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 - Isaac's syndrome There is no cure for Isaac\'s syndrome.[checkorphan.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]
  • The long-term prognosis for individuals with the disorder is uncertain.[tillicummedicalclinic.ca]

Etiology

  • The overlap between various syndromes and etiologies can be confusing.[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]
  • Asthma: Epidemiology, etiology and risk factors. CMAJ. 2009; 181(9):E181-E190. DOI: [ Links ] 3. British Thoracic Society, Scottish Intercollegiate Guidelines Network. British guideline on the management of asthma. UK; 2014. p. 11-75.[scielo.org.mx]

Epidemiology

  • 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: [ Links ] 3. British Thoracic Society, Scottish Intercollegiate Guidelines Network. British guideline on the management of asthma. UK; 2014. p. 11-75.[scielo.org.mx]
  • K Channel Disorder Episodic Ataxia CA 2 Channel Disorder Primarily Electrical with variable clinical myotonia Other* Medications / Agents * Electrical Myotonia with Clinical Myotonia: Myotonic dystrophy EPIDEMIOLOGY According to the NIH, myotonic dystrophy[now.aapmr.org]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • Prevention - Isaac's syndrome Not supplied. Diagnosis - Isaac's syndrome Electromyography (EMG) is a standard examination in which electrodes measure electrical activity in muscles.[checkorphan.org]
  • Mark Puder and Kathleen Gura and shown to prevent liver damage. Intrigued, they emailed Dr. Tom Jaksic — and received a reply within an hour. With Dr. Jaksic’s encouragement, they headed to Boston Children’s with Isaac.[thriving.childrenshospital.org]
  • It studies medical-related principles with sports science, to prevent injury, and promote healing.[qrius.com]
  • […] itching, scratches, pain, and uneasiness should be discussed with the doctor People on steroids and suffering from high sugar levels should maintain a strict diet chart Enough water in-take with medicines: Swallowing medicines without enough water may prevent[m.dailyhunt.in]

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