Symptoma

Familial Periodic Paralysis

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

A case of a 29 year old male is presented here. The patient presented with sudden onset paralysis of his extremities. Laboratory evaluation revealed a markedly low potassium level. [casesjournal.biomedcentral.com]

The theoretical analysis presented here shows that although such hypotheses are qualitatively correct, the quantitative contribution of the electrogenic pump is too small to account entirely for the changes in membrane potential observed between the paralytic [ncbi.nlm.nih.gov]

Paramyotonia congenita (Online Mendelian Inheritance in Man (OMIM) 168300), a form which often accompanies hyperkalemic periodic paralysis, but may present alone. [en.wikipedia.org]

  • Fatigue

    Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to hot or cold temperatures, certain medications, and periods without food (fasting). [ghr.nlm.nih.gov]

    Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to cold temperatures, certain medications, and periods without food (fasting). [icdlist.com]

    Myopathy : This form is characterized by permanent muscle weakness, fatigue, and pain. More than 74 percent of older people with hypoPP experience myopathy. [healthline.com]

    The paralytic form is more common, causing randomly spaced attacks (or episodes) of weakness which range from mild (which feels like fatigue) to flaccid (rag-doll-type) paralysis triggered by a fall in serum potassium. [hkpp.org]

    Attacks may be provoked by stress such as a viral illness or fatigue, or certain medications such as beta-agonists, insulin or steroids. A perturbation of sodium and calcium ion channels results in low potassium levels and muscle dysfunction [ 2 ]. [casesjournal.biomedcentral.com]

  • Shivering

    Also, alterations of serum osmolarity, pH, and hypothermia-induced muscle shivering and mechanical stimuli can exacerbate the myotonic reaction. [ncbi.nlm.nih.gov]

  • Burning Pain

    IEM is characterized by intermittent burning pain and skin redness in hands and feet. This condition is usually triggered by warmth or exercise 48. Therefore, P1308L in the neuronal Nav1.7 shares some of the triggers with P1158S in skeletal muscles. [doi.org]

  • Inguinal Hernia

    Case Report The patient was a 53-yr-old man who was seen at our Preoperative Evaluation Center the day prior to undergoing radical retropubic prostatectomy and right inguinal hernia repair. [anesthesiology.pubs.asahq.org]

  • Masseter Spasm

    Prevention of secondary complications: During surgery, avoid use of depolarizing anesthetic agents (including potassium, suxamethonium, and anticholinesterases) that aggravate myotonia and can result in masseter spasm and stiffness of respiratory and [ncbi.nlm.nih.gov]

  • Myopathy

    G71.3 Mitochondrial myopathy, not elsewhere classified G71.8 Other primary disorders of muscles G71.9 Primary disorder of muscle, unspecified G72 Other and unspecified myopathies G72.0 Drug-induced myopathy G72.1 Alcoholic myopathy G72.2 Myopathy due [icd10data.com]

    (s): Inflammatory myopathy NOS G72.8 Other specified myopathies G72.81 Critical illness myopathy Inclusion term(s): Acute necrotizing myopathy Acute quadriplegic myopathy Intensive care (ICU) myopathy Myopathy of critical illness G72.89 Other specified [icd10coded.com]

    The myopathy associated with hypokalemic familial periodic paralysis is thus another cause for the presence of CK 2 (MB). [ncbi.nlm.nih.gov]

    Myopathy : This form is characterized by permanent muscle weakness, fatigue, and pain. More than 74 percent of older people with hypoPP experience myopathy. [healthline.com]

  • Myalgia

    Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. Neurology. 2018 Jan 30; 90(5):e412-e418. [invitae.com]

    […] over years Some patients Muscle rigidity Calf hypertrophy Penetrance: Male 100%; Female 50% Clinical features with specific mutations Arg528His 4 Common Later onset: Mean 14.5 years in males; 11.8 years in females Reduced penetrance in females (50%) Myalgias [neuromuscular.wustl.edu]

  • Suggestibility

    Family history strongly suggested involvement of other members of the family. Physical examination did not suggest any neurological deficit. [ncbi.nlm.nih.gov]

  • Flaccid Paralysis

    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 fluctuations in serum potassium levels; periodic paralysis may also occur as [icd9data.com]

    paralysis after attacks of hypokalemia (potassium depletion). [medical-dictionary.thefreedictionary.com]

    Definition (MSH) A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. [fpnotebook.com]

An association with thyroid disease is well established and further workup revealed Grave's disease in this patient. [casesjournal.biomedcentral.com]

Cardiac evaluations using serial ECGs with measurements of the QTc interval are essential and should be performed on all patients undergoing workup for periodic paralysis. 23, 24, 25 References 1. [hkpp.org]

Patients often report years of wrong diagnosis and treatments that made them worse instead of better. [en.wikipedia.org]

Follow-up studies proved that the inhalation of salbutamol is a simple and adequate method for the treatment of the paralytic episodes in these patients. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

References 1.Taro’s Keveyis (dichlorphenamide) 50 mg Tablets Now Available for the Treatment of Primary Hyperkalemic and Hypokalemic Periodic Paralysis [news release]. [raredr.com]

Participants will be randomly assigned to one of two treatment groups: dichlorphenamide or placebo (an inactive substance). [clinicaltrials.gov]

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]

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. [encyclopedia.com]

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]

Hardeep Singh Malhotra,Ravindra Kumar Garg Journal of the Neurological Sciences. 2014; 3 A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis [annalsofian.org]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Follow up studies were performed to determine the etiology of the patient's hypokalemia. Urine sodium and potassium, and serum aldosterone and renin levels were measured to rule out adrenal involvement and were found to be normal. [casesjournal.biomedcentral.com]

[…] reported to be associated with hypokalemic paralysis. 3 Related Long-Term Surgical Management of Severe Pelvic Injury and Resulting Neurogenic Bladder From an Improvised Explosive Device Pa Ping, a condition involving hypokalemic paralysis of uncertain etiology [mdedge.com]

Hypokalemic periodic paralysis though common among Indian population varies greatly in disease spectrum and magnitude in our country due to the heterogeneous pattern of etiology behind it. [ijem.in]

Objective: To study the etiology, varied presentations, and outcome after therapy of patients with hypokalemic paralysis. [annalsofian.org]

(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]

Epidemiology Hypokalaemic periodic paralysis (HOKPP) has a prevalence of 1 case per 100,000 population. [patient.info]

Home, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info EPISODIC MUSCLE WEAKNESS Hypokalemic Periodic Paralysis Hypokalemic periodic paralysis, Hereditary: General features Epidemiology [neuromuscular.wustl.edu]

This review focuses on the clinical features, molecular genetic defects, and pathophysiologic mechanisms that underlie familial periodic paralysis. [ncbi.nlm.nih.gov]

(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]

In this chapter, we describe the pathophysiology, clinical presentation, laboratory findings, and treatment of the nondystrophic myotonias and periodic paralyses ( Table 31-1 ). [neurology.mhmedical.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]

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]

Prevention There is no way to prevent the occurrence of either disease in a person with the gene for the disease. [encyclopedia.com]

Treat episodes by correcting serum potassium and prevent episodes by recommending lifestyle changes. [merckmanuals.com]

Prevention of Primary Manifestations Diet/environment. [ncbi.nlm.nih.gov]