scholarly journals Familial Risks for Diseases of Myoneural Junction and Muscle in Siblings Based on Hospitalizations and Deaths in Sweden

2006 ◽  
Vol 9 (4) ◽  
pp. 573-579 ◽  
Author(s):  
Kari Hemminki ◽  
Xinjun Li ◽  
Kristina Sundquist
Keyword(s):  
Muscular Dystrophy ◽  
Myasthenia Gravis ◽  
Periodic Paralysis ◽  
Myoneural Junction ◽  
Sibling Pairs ◽  
Affected Sibling ◽  
Life Threatening ◽  
Genetic Mechanisms ◽  
Risk Ratios ◽  
Very High

AbstractDiseases of the myoneural junction and muscle are disabling and some are life-threatening. Recent successes in the identification of the underlying genetic mechanisms have had profound implication for their diagnostics, treatment and classification. We define familial risks for siblings who were hospitalized for or deceased from diseases of the myoneural junction and muscle. A nationwide database on diseases of the myoneural junction and muscle was constructed by linking the Multigeneration Register on 0- to 69-year-old siblings to the Hospital Discharge Register and the Causes of Death Register from years 1987 to 2001. Standardized risk ratios (SIRs) were calculated for affected sibling pairs by comparing to those whose siblings had no diseases of myoneural junction and muscle. Among a total of 2307 patients, myasthenia gravis, muscular dystrophy and myotonic disorders were commonest diagnoses. The sibling risks for these disease were 22, 190 and 198, respectively, when a sibling was diagnosed with any disease of the myoneural junction and muscle. The concordant SIRs, both siblings presenting the same disease, were 42 for myasthenia gravis, 737 for muscular dystrophy, 2000 for congenital myopathy, 1211 for myotonic disorder, 909 for periodic paralysis and 209 for unspecified myopathy. Only a few discordant sibling pairs were noted. The very high overall SIRs for the diseases of the myoneural junction and muscle imply that the sporadic forms of these diseases are relatively rare and these diseases are overwhelmingly heritable.

scholarly journals An Overview of Cardiac Management in Neuromuscular Disease

2016 ◽  
Vol 10 (1) ◽  
pp. 82-88
Author(s):  
Renee M. Hickey ◽  
John D. Cullen ◽  
George M. Sachs
Keyword(s):  
Muscular Dystrophy ◽  
Cardiac Function ◽  
Myasthenia Gravis ◽  
Neuromuscular Disease ◽  
Neuromuscular Disorders ◽  
Cardiovascular Complications ◽  
Muscular Dystrophies ◽  
Cardiac Pathology ◽  
Life Threatening

Muscular dystrophy and myasthenia gravis are two neuromuscular disorders that can involve significant cardiovascular complications. The frequency and severity of cardiac pathology varies widely among the muscular dystrophies. In some, it is nearly inevitable and requires regular evaluation. In others, assessment of cardiac function can be more symptom-driven. On-ly a minority of myasthenic patients manifest disease-related cardiovascular complications; however, their presentation can be rapidly progressive and life-threatening..

scholarly journals Coexistence of myasthenia gravis with hypokalemic periodic paralysis: a rare presentation

2019 ◽  
Vol 12 (10) ◽  
pp. e231241 ◽  
Author(s):  
Farah Gul Khan ◽  
Sidra Namran
Keyword(s):  
Myasthenia Gravis ◽  
Young Female ◽  
Periodic Paralysis ◽  
Acute Onset ◽  
Hypokalemic Periodic Paralysis ◽  
Rare Presentation ◽  
Limb Weakness ◽  
Oral Steroids ◽  
Life Threatening ◽  
Neurological Illnesses

Bilateral symmetrical weakness of acute onset is not very uncommon and the differential varies widely from life-threatening neurological illnesses to metabolic and electrolyte derangements. We report the case of a young female with severe muscle weakness, respiratory distress and hypokalemia who required immediate intubation on arrival to emergency department. During hospital course, even after normalisation of serum potassium and some improvement in limb weakness, patient failed multiple attempts of extubation because of type II respiratory failure. Subsequently, acetyl cholinesterase antibodies were checked which came out positive, and diagnosis of myasthenia gravis and hypokalemic periodic paralysis was made. She was successfully extubated after intravenous pulse steroids, pyridostigmine and plasmapheresis. Patient was finally discharged home on oral steroids, pyridostigmine and azathioprine. In a patient presenting with hypokalemic weakness, the suspicion of a second disorder should be very high if weakness fails to resolve following correction of hypokalemia.

scholarly journals Study of microbial flora in indwelling catheter, drains, CIVP lines and endotracheal tubes

2013 ◽  
Vol 3 (6) ◽  
pp. 469-471
Author(s):  
SB Pradhan ◽  
R Dhakhwa ◽  
CD Shrestha
Keyword(s):  
College Teaching ◽  
Routine Practice ◽  
Clinical Microbiology Laboratory ◽  
Infection Rates ◽  
Intravascular Catheter ◽  
Indwelling Catheter ◽  
Endotracheal Tubes ◽  
Medical College ◽  
Life Threatening ◽  
Very High

Background: The use of indwelling devices like Urinary catheter, Drain tubes, Central intravascular catheter, endotracheal tubes has become routine practice in the medical field. Localized or systematic infection are frequent complications associated with extensive use of these devices, requiring its removal or may even be associated with life threatening consequences. Materials and Methods: Microbiological study was carried out among all the indwelling device samples received from 20th April 2011 to 19th April 2012 at Clinical Microbiology Laboratory, Department of Pathology, Kathmandu Medical College Teaching Hospital. Results: Out of total 205 samples (125 Foley’s catheters, 31 drain tubes, 29 central intravascular catheter lines and 20 endotracheal tubes) received during this study period, 38.4% urinary catheters, 23.33% drain tubes, 6.9% central intravascular catheter lines and 40.0% endotracheal tubes were found to have significant growth. Escherichia coli and Klebsiella were found to be the commonest organisms. Conclusion: The infection rates of indwelling devices used for various reasons are found to be very high. These infections have increased the morbidity and mortality of the hospitalized patients and also increased the duration of hospital stay. Thus aseptic measurements during insertion of these devices periodic change of these devices may help to overcome these complications. DOI: http://dx.doi.org/10.3126/jpn.v3i6.8995   Journal of Pathology of Nepal (2013) Vol. 3, 469-471

scholarly journals Thyrotoxic Periodic Paralysis Causing Back Pain and Leg Weakness: An Unusual Presentation of Hyperthyroidism

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Henrik Elenius ◽  
Marie Cesa ◽  
Corina C. Nava Suarez ◽  
Abhishek Nimkar ◽  
Prasanta Basak ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Periodic Paralysis ◽  
Close Monitoring ◽  
Respiratory Compromise ◽  
Thyrotoxic Periodic Paralysis ◽  
Asian Populations ◽  
Life Threatening ◽  
Common Etiology ◽  
Leg Weakness ◽  
Hispanic Male

Thyrotoxic periodic paralysis (TPP) is a rare muscular disorder, characterized by muscle weakness and hypokalemia triggered by thyrotoxicosis. In Asian populations, 2% of patients with thyrotoxicosis are affected, compared to only 0.1–0.2% of non-Asians. The vast majority of patients are male. Muscle weakness ranges in severity from very mild to life-threatening, due to respiratory compromise. We present a case of a previously healthy 39-year-old Hispanic male who presented with sudden quadriparesis and quickly recovered after being treated for hypokalemia and thyrotoxicosis. TPP, although unusual, is important to recognize as it is a potentially fatal condition that requires close monitoring and is readily reversible with appropriate therapy. Any cause of thyroid hormone excess can cause TPP, with Graves’ disease being the most common etiology. Acute treatment includes potassium repletion, while long-term management focuses on determining and treating the cause of thyrotoxicosis, since maintaining a euthyroid state will prevent further episodes of TPP.

UNEXPLAINED DELIRIUM : THINK OF THYROID STORM

2021 ◽  
pp. 23-25
Author(s):  
Soni Namita ◽  
Shruti A ◽  
Soni Anand ◽  
Nikalje A ◽  
Bharadwaj M
Keyword(s):  
Ventricular Tachycardia ◽  
Thyroid Storm ◽  
Rare Entity ◽  
Thyroid Medication ◽  
Malignant Arrhythmia ◽  
Life Threatening ◽  
Systemic Condition ◽  
Very High ◽  
Serum Tsh

Background: Thyroid storm is a life-threatening Endocrine emergency with an incidence rate of 1% to 2% all over the world. It is a systemic condition leading to increased production of Thyroid Hormone and its release leading to Thermoregulatory, Adrenergic, Neuropsychiatric, Cardiovascular, and Abdominal Manifestations. Thyroid storm with Malignant Arrhythmia and delirium both together is rare entity, but the mortality rate is very high. The presentation of Malignant Arrhythmias and delirium together in the initial phase of the disease is much less common with only a few isolated cases described in the scientic literature. Objective: To present a case in which a patient had two simultaneous complication of thyroid storm i.e. delirium and ventricular tachycardia. Case Study: We report a 65 years-year-old man who came with complaints of Diarrhea, Fever, Breathlessness and psychosis. His serum tsh was <0.015 and anti tpo antibodies was 83. He was diagnosed to be in Thyroid storm and later had complications including Ventricular Tachycardia and delirium in an undiagnosed case of Hyperthyroidism. He was started on anti thyroid medication and slowly as his condition improved he was discharged. Conclusion: Patients with Thyrotoxicosis need to be closely monitored for complications since its early diagnosis and treatment may save lives.

Myasthenia gravis: the patient in crisis

1991 ◽  
Vol 11 (7) ◽  
pp. 18-26 ◽  
Author(s):  
E Chipps
Keyword(s):  
Critical Care ◽  
Myasthenia Gravis ◽  
Functional Capacity ◽  
Care Nurse ◽  
Critical Care Nurse ◽  
Myasthenic Patient ◽  
Life Threatening ◽  
Life Threatening Event

Crisis in the myasthenic patient is a life-threatening event. The expertise of the critical care nurse is crucial to the prevention of complications and the return of the patient to a functional capacity.

scholarly journals Thyrotoxic Periodic Paralysis—A Misleading Challenge in the Emergency Department

Diagnostics ◽  
2020 ◽  
Vol 10 (5) ◽  
pp. 316 ◽  
Author(s):  
Stefana Bilha ◽  
Ovidiu Mitu ◽  
Laura Teodoriu ◽  
Cristian Haba ◽  
Cristina Preda
Keyword(s):  
Clinical Signs ◽  
Initial Therapy ◽  
Periodic Paralysis ◽  
The Other ◽  
Motor Deficit ◽  
Antithyroid Drugs ◽  
Thyrotoxic Periodic Paralysis ◽  
First Case ◽  
Life Threatening ◽  
Antithyroid Agents

Despite its’ life-threatening potential due to cardiac severe dysrhythmia in the context of severe hypokalemia, thyrotoxic periodic paralysis (TPP) often goes unrecognized. Although classically confined to young Asian men, it can occur irrespective of age, sex, and race. We report a short series of three cases of TPP as first presentation of Graves’ disease in a young Caucasian male and in two Caucasian elderly and middle-aged women, respectively. The first patient developed malignant ventricular arrhythmias due to severe hypokalemia and was defibrillated, with recovery after prompt potassium correction and administration of antithyroid agents and propranolol. The other two cases developed persistent hypokalemia despite adequate potassium chloride (KCl) repletion, with slow recovery of motor deficit and serum potassium normalization up to day 5. In the first case, long-term euthyroid state was achieved via total thyroidectomy due to the presence of a suspicious nodule that proved to be malignant. In the other two cases, medical treatment was the choice of therapy for thyrotoxicosis. None experienced recurrent TPP. Thyroid hormone evaluation is mandatory in the presence of hypokalemic paralysis, even in the absence of clinical signs of thyrotoxicosis. If TPP is confirmed, initial therapy should comprise antithyroid drugs and propranolol, besides hypokalemia correction.

“Mummy, my eyelids are heavy”: A case series of juvenile myasthenia gravis

2019 ◽  
pp. 112067211986760
Author(s):  
Logeswari Krishna ◽  
Nor Fadzillah Abdul Jalil ◽  
Pooi Wah Lott ◽  
Sujaya Singh ◽  
May May Choo
Keyword(s):  
Myasthenia Gravis ◽  
Case Series ◽  
Tertiary Centre ◽  
Ocular Symptoms ◽  
Ocular Myasthenia Gravis ◽  
Life Threatening ◽  
Receptor Antibodies ◽  
Juvenile Myasthenia Gravis ◽  
Anti Acetylcholine ◽  
Second Twin

Purpose: To report three cases of juvenile myasthenia gravis aged between 18 and 24 months with ocular symptoms as their first presentation. Method: A case series. Results: We present a case series of juvenile myasthenia gravis in a tertiary centre in Malaysia. Two of the three cases consist of a pair of twins who presented with ptosis of bilateral eyes; the first twin presented 4 months later than the second twin. These two cases were positive for anti-acetylcholine receptor antibodies and had generalized myasthenia gravis, whereas the other case was negative for receptor antibodies and was purely ocular myasthenia gravis. Conclusion: Juvenile myasthenia gravis is relatively rare in toddlers. Early diagnosis and commencement of treatment is important to slow the progression of the disease and avoiding life-threatening events.

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