Because primary periodic paralysis (PPP) is difficult to diagnose, multiple levels of evaluation and testing are often required.
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PRIMARY PERIODIC
PARALYSIS (PPP):
A LONG AND FRUSTRATING
DIAGNOSTIC JOURNEY
FOR SOME PATIENTS
Misdiagnosis and Delays in Diagnosis
Are Common*1-3
PPP is difficult to diagnose because symptoms, signs, and test results may lead physicians to diagnose other disorders.1-3 Episodic symptoms can mimic a variety of other, more common diseases, including1,2:
Spinal cord injury
Guillain-Barré syndrome
Neuromuscular junction disorder 		Depression and other
psychiatric disorders
Seizure
Stroke
PPP Is a Genetic Condition That May
Affect Numerous Family Members4
Because PPP is autosomal dominant, looking into family history is important and can potentially shorten the time to a confirmed diagnosis for a person experiencing attacks of muscle weakness.1
A Multidimensional Assessment Is Required
Diagnosis of PPP is difficult and requires multiple levels of testing and evaluation.5-7
Genes Associated With the Various Forms
of PPP5-7
Genetic testing is recommended as the first diagnostic step with intermediate-to-high clinical suspicion of PPP, and can help confirm the diagnosis5
* Information was based on a survey of 137 patients aged 18 years or older with a genetic diagnosis of hyperkalemic periodic paralysis. Surveys were completed either online or on paper.1
Genetic testing can help confirm a suspected
diagnosis. However, there may be other gene variants
involved in PPP, and the absence of a known genetic
alteration does not preclude diagnosis5

Order a no-cost genetic test here

Contact your Area Business Specialist
[First, Last - ABS@strongbridgebio.com]
to schedule a peer-to-peer discussion
with an expert.
References: 1. Charles G, Zheng C, Lehmann-Horn F, Jurkat-Rott K, Levitt J. Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals. J Neurol. 2013;260:2606-2613. 2. Arya SN. Periodic paralysis. J Indian Acad Clin Med. 2002;3:374-382. 3. Cavel-Greant D, Lehmann-Horn F, Jurkat-Rott K. The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients. Acta Myol. 2012;31:126-133. 4. Fontaine B, Phillips LH 2nd. A newly approved drug for a rare group of diseases: dichlorphenamide for periodic paralysis. Neurology. 2016;86:1366-1367. 5. Statland JM, Fontaine B, Hanna MG, et al. Review of the diagnosis and treatment of periodic paralysis. Muscle Nerve. 2018;57:522-530. 6. Vicart S, Sternberg D, Arzel-Hézode M, et al. Hypokalemic Periodic Paralysis. NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. 2014. 7. Weber F, Jurkat-Rott K, Lehmann-Horn F. Hyperkalemic Periodic Paralysis. NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. 2016. 8. National Institutes of Health. Paramyotonia congenita. Available at: https://ghr.nlm.nih.gov/condition/paramyotonia-congenita. Accessed April 22, 2018. 9. Rose M, Griggs RC. Hereditary nondegenerative neuromuscular disease. In: Goetz CG, ed. Textbook of Clinical Neurology. 3rd Edition. New York, NY: Elsevier; 2007:814-826. 10. Ralph J, Ptaček L. Muscle channelopathies: periodic paralyses and nondystrophic myotonias. In: Rosenberg RN, Pascual JM, eds. Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease. 5th Edition. New York, NY: Elsevier; 2015:1177-1189.
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