Presentation
Treatment of TPP is not well established and must be individualized to each presentation. [westjem.com]
Conclusion: Periodic paralysis can present with initial symptoms of thyrotoxicosis associated with normokalemia. [endocrine-abstracts.org]
Two pitfalls are present for the student, however. First, the abnormalities are superimposed on a changing, developing brain, not a rather static, mature organ. [books.google.com]
A patient presenting with paralysis as the first presentation in thyrotoxicosis is extremely rare. Here we present a case of twenty one year old male patient presenting with thyrotoxic normokalemic periodic paraplegia as the first presentation. [casereports.in]
Methods: Seven male patients were enlisted who presented to the emergency department over a period of three years with weakness and paralysis in the morning. [scinapse.io]
Respiratoric
- Respiratory Distress
Following administration of general anesthesia, the affected individual may develop respiratory distress in the recovery room resulting from weakness of respiratory muscles in addition to generalized weakness lasting for hours. [ncbi.nlm.nih.gov]
Gastrointestinal
- Constipation
* CM of MILD to MODERATE hypokalemia Muscular Weakness* Fatigue* Muscle cramps* Constipation/Ileus* CM of SEVERE hypokalemia ( Flaccid paralysis* Hyporeflexia* Hypercapnia Tetany Rhabdomyolysis* ECG findings in hypokalemia Decreased amplitude** Broadening [quizlet.com]
Gay et al. (2008) described a female infant with severe fatal neonatal nondystrophic myotonia who presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle [becomerich.lab.u-ryukyu.ac.jp]
Skin
- Sweating
Case Presentation A 34-year-old African American female presented with excessive sweating, tremors, sore throat, and neck pain that was followed by aches and weakness in her lower limbs. [najms.org]
These include prodromal paresthesias, sweating [ 12 ], post-ictal myalgia [ 14 ], post-ictal extreme fatigue, thirst, shortness of breath (either due to anxiety or to the episode itself), palpitations, clumsiness, irritability, and mental dullness. [translational-medicine.biomedcentral.com]
Ears
- Low Set Ears
Patients with ATS may also have skeletal abnormalities like scoliosis (curvature of the spine), webbing between the second and third toes or fingers (syndactyly), crooked fingers (clinodactyly), a small jaw (micrognathia) and low-set ears. [en.wikipedia.org]
Episodes usually begin before age 20 with all or some of the clinical triad: Periodic paralysis Prolonged QT interval and ventricular arrhythmias Dysmorphic physical features Dysmorphic physical features include short stature, high-arched palate, low-set [merckmanuals.com]
Some have unusual facial and hand characteristics, such as short stature, clinodactyly (an inward curvature of the 5th fingers), scoliosis, widely spaced eyes, low-set ears, a broad forehead and a small jaw. [hkpp.org]
Some people with this genetic disease have unusual body, facial, and hand characteristics such a short stature, scoliosis, widely spaced eyes, small jaw, and low-set ears. [medicinenet.com]
Such features include a broad forehead, low-set ears, eyes that are spaced apart wider than usual (hypertelorism), and a small jaw (micrognathia). [rarediseases.org]
Neurologic
- Flaccid Paralysis
Description A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. [berktree.com]
[…] have been overtly hypokalemic if she had presented later with flaccid paralysis. [najms.org]
[…] disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia; these conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle; frequently associated with [icd9data.com]
In neurologic examination, there was symmetric flaccid paralysis with areflexia and impaired sensation in the lower extremities. Fasciculations, myoclonus and muscular atrophy were not observed. Cranial nerves were intact. [endocrine-abstracts.org]
Paralysis, Familial Tree Number: C05.651.701 C10.668.491.650 C16.320.565.618.711 C18.452.648.618.711 Definition English : A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia [decs.bvs.br]
- Paresthesia
Others complain of paresthesias and cognitive impairment (described by patients as mental dullness, fogginess, inability to concentrate, or confusion) from acetazolamide. [translational-medicine.biomedcentral.com]
Ingrid Gamstorp, noticed generalized fatigue and paresthesias predominately in her left hand. [gamstorp.blogspot.com]
In some individuals, paresthesias, probably induced by the hyperkalemia, herald the weakness. During an attack of weakness, the muscle stretch reflexes are abnormally diminished or absent. [ncbi.nlm.nih.gov]
- Irritability
Patients will often complain of a burning sensation due to potassium irritation of the recipient vein. [translational-medicine.biomedcentral.com]
After an attack, affected individuals report clumsiness, weakness, and irritability, and in 62% muscle pain secondary to the attack. Between attacks, the majority report no or mild symptoms. [ncbi.nlm.nih.gov]
- Tingling
Lam L, Nair RJ, Tingle L. Thyrotoxic periodic paralysis. Proc (Bayl Univ Med Cent) 2006;19:126-9. 4. Lin SH. Thyrotoxic periodic paralysis. Mayo Clin Proc 2005;80:99-105. 5. Kung AW. [najms.org]
- Aura
Part of this may be that migraines are present in up to 50% of patients and can cause a confusing array of symptoms including headaches, speech difficulties and visual, auditory or sensory auras. [en.wikipedia.org]
Workup
Serum sodium level may fall as potassium level rises." http://emedicine.medscape.com/article/1171678-workup Added July 25, 2015 "Normokalaemic periodic paralysis: In these attacks the blood potassium remains normal In fact, it has recently been discovered [livingwithperiodicparalysis.blogspot.com]
Clinical Testing and Workup Because potassium levels may be reduced during an episode of periodic paralysis, a blood test to determine the serum potassium levels during an episode can be helpful in diagnosing the disorder in some cases. [rarediseases.org]
Serum
- Hyponatremia
Recurrent dehydration and severe failure to thrive, associated with mild hyponatremia and hyperkalemia, are typical features. [ncbi.nlm.nih.gov]
QT, RR, ST Intervals
- Prolonged QT Interval
**Hypotension, Dysrhythmias, ECG changes -(Tall (Peaked) T waves,* Absent P waves, Wide QRS, Prolonged QT interval, Sinus brady, conduction defects) Initial eval of hyperkalemia -Due to the risk of life-threatening cardiac dysrhythmias and sudden death [quizlet.com]
Episodes usually begin before age 20 with all or some of the clinical triad: Periodic paralysis Prolonged QT interval and ventricular arrhythmias Dysmorphic physical features Dysmorphic physical features include short stature, high-arched palate, low-set [merckmanuals.com]
In addition ATS patients experience irregular heart rhythms including a prolonged QT interval. [hkpp.org]
Andersen-Tawil syndrome or ATS: People with this type have inconsistent potassium shifts during attacks of paralysis, and may have symptoms of irregular heart rhythms including a prolonged QT interval. [medicinenet.com]
However, subsequent clinical reports have shown the QT interval is not prolonged or only mildly prolonged in most cases. Instead, the Q-U interval is markedly prolonged. [rarediseases.org]
Treatment
Prophylactic treatment with thiazide diuretics is highly effective in preventing attacks in hyperKPP. However, the efficacy and safety of such diuretics in normoKPP remain unclear. [ncbi.nlm.nih.gov]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
Treatment for periodic paralysis. Cochrane Database Syst Rev. January 2008; 23(1): S. L. Venance et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006; 129:8-17. [rarediseases.info.nih.gov]
The treatment of TTP is not well defined. Traditionally, potassium repletion has been the mainstay of treatment. [westjem.com]
Find diagnostic and treatment information quickly and easily thanks to a highly illustrated, easy-to-read format that highlights key details. [books.google.com]
Prognosis
Prognosis - Normokalemic periodic paralysis Not supplied. Treatment - Normokalemic periodic paralysis Not supplied. Resources - Normokalemic periodic paralysis Not supplied. [checkorphan.org]
Family history Timing Intensity History of administration of certain drugs Clinical examination Differential Diagnosis Laboratory investigations Serum K+ CPK and serum myoglobin ECG EMG Nerve conduction studies Provocative Testing Muscle biopsy Treatment Prognosis [slideshare.net]
Severe prognosis in a large family with hypokalemic periodic paralysis. Muscle Nerve. 2003;27:165–9. 13. Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia. Muscle Nerve. 2004;30:114–7. [revistas.fucsalud.edu.co]
Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]
Prognosis Most patients learn to prevent their attacks well enough that no significant deterioration in the quality of life occurs. Strenuous exercise must be avoided, however. Attacks often lessen in severity and frequency during middle age. [medical-dictionary.thefreedictionary.com]
Etiology
Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]
Thyroid disease may present first with neurological complications or else may occur concurrently in patients suffering other neurological disorders, particularly those with an autoimmune etiology. [scinapse.io]
Evaluation of the etiology of the thyrotoxic state should also be undertaken with treatments targeting the underlying cause. Graves’ disease remains the most common precipitating cause, as was seen in our patient. [westjem.com]
Epidemiology
(including hypokalemic periodic paralysis and thyrotoxic periodic paralysis, and other “Channelopathies” or “Membranopathies) Pathophysiology Epidemiology Primary or familial periodic paralysis Secondary periodic paralysis Conventional classification [slideshare.net]
Twenty patients with periodic paralysis were evaluated and the aspects studied included epidemiological data, clinical manifestations, ancillary tests, treatment and evolution. [scielo.br]
[…] impact childhood development Monday, 28 January 2019 0 comments 4 Gene mutations in paediatric epilepsies cause NMDA‐pathy, and phasic and tonic GABA‐pathy Friday, 25 January 2019 0 comments 2 Subacute sclerosing panencephalitis: clinical phenotype, epidemiology [icnapedia.org]
Pathophysiology
The pathophysiology of neurological disorders in childhood is based on the same principles of the organization, structure, and function of the nervous sys tem as apply to adults. Two pitfalls are present for the student, however. [books.google.com]
(including hypokalemic periodic paralysis and thyrotoxic periodic paralysis, and other “Channelopathies” or “Membranopathies) Pathophysiology Epidemiology Primary or familial periodic paralysis Secondary periodic paralysis Conventional classification [slideshare.net]
The presentation is most commonly seen in Asian men and is usually associated with hypokalemia, which is believed to play a role in the underlying pathophysiology. The diagnosis is usually not made in the emergency department (ED). [westjem.com]
Br J Anaesth 1980; 52: 153–64Ellis, FR Miller J, Katz RL: Muscle diseases, Anesthesia and Uncommon Disease: Pathophysiologic and Clinical Correlations, 2nd edition. Edited by Katz J, Benumof J, Kadis LB. [anesthesiology.pubs.asahq.org]
Prevention
Prophylactic treatment with thiazide diuretics is highly effective in preventing attacks in hyperKPP. However, the efficacy and safety of such diuretics in normoKPP remain unclear. [ncbi.nlm.nih.gov]
Taking potassium supplements may help prevent muscle weakness. Eating a low-carbohydrate diet may help decrease symptoms. A medicine called acetazolamide may be prescribed to prevent attacks. [medlineplus.gov]
Treat episodes by correcting serum potassium and prevent episodes by recommending lifestyle changes. [merckmanuals.com]
Prevention There is no way to prevent the occurrence of either disease in a person with the gene for the disease. [medical-dictionary.thefreedictionary.com]