Suspected hyperkalemic periodic paralysis with myotonia in Shi Tzu and German Shepherds dogs
Abstract
In humans, skeletal muscle channelopathies are genetic disease with very low incidence. Regarding the sodium channel in particular, the different SCN4A mutations can result in various phenotypes ranging from muscle paralysis (hyperkalemic periodic paralysis, hypokalemic periodic paralysis) to muscle hyperexcitability (congenit paramyotonia, myotonias aggravated by potassium), through combined phenotypes of the previous two. There is a close interrelation between hyperkalemic periodic paralysis and myotonias; both characteristics can coexist in the same patient.
This work describes a clinical picture affecting a litter of 7 German Shepherd puppies and a litter of 4 Shih-Tzu puppies with episodes characterized by a clinical phenotype of muscular paralysis combined with muscular hyperexcitability.
Based on clinical findings (clinical phenomenology, age of onset, episodic recurrence, absense of clinical signs in the period between episodes) and laboratory (hyperkalemia), and the results of treatment with acetazolamide, the presumptive diagnosis was hyperkalemic periodic paralysis with myotonia/paramyotonia due to SCN4A channelopathy.
We emphasize the importance of clinical diagnosis for these rare pathologies. In absence of genetic diagnosis, complementary diagnostic methods have limited value due to the functional nature of these disorders.
We proposed this description as the first communication of this type in German Shepherd and Shi-Tzu dogs.
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References
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