Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)
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DOI: 10.1007/s00415-019-09302-3
Abstract: We report a young wheelchair-dependent patient with an unclear proximal myopathy and a heterozygous, de-novo Cav1.1-R1239G mutation suggesting hypokalemic periodic paralysis (HypoPP). Sonography showed a loss of the pennate pattern indicative of an edema, whereas… read more here.
Keywords: periodic paralysis; strength; muscle; cav1 r1239g ... See more keywords
Ventricular tachycardia secondary to thyrotoxic periodic paralysis: A case report.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of electrocardiology"
DOI: 10.1016/j.jelectrocard.2021.06.005
Abstract: Thyrotoxic periodic paralysis (TPP) is a rare but potentially life-threatening entity, which is characterized by sudden onset of muscle weakness and can in exceptional cases be associated with more severe symptoms, such as severe hypokalemia.… read more here.
Keywords: periodic paralysis; ventricular tachycardia; tachycardia secondary; thyrotoxic periodic ... See more keywords
Structural Basis for Gating Pore Current in Periodic Paralysis
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DOI: 10.1038/s41586-018-0120-4
Abstract: Potassium-sensitive hypokalaemic and normokalaemic periodic paralysis are inherited skeletal muscle diseases characterized by episodes of flaccid muscle weakness1,2. They are caused by single mutations in positively charged residues (‘gating charges’) in the S4 transmembrane segment… read more here.
Keywords: periodic paralysis; paralysis; voltage sensor; gating pore ... See more keywords
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms
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DOI: 10.1093/brain/awy283
Abstract: Sampedro Castaneda et al. describe a boy with hypokalaemic periodic paralysis (hypoPP) and epilepsy without mutations in known risk genes. They show that a de novo mutation in ATP1A2, encoding a Na+/K+-ATPase subunit, gives rise… read more here.
Keywords: atp1a2 mutation; periodic paralysis; novel atp1a2; hypokalaemic periodic ... See more keywords
Unique Presentation of Thyrotoxic Periodic Paralysis With Urticarial Dermographia.
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DOI: 10.1093/milmed/usac342
Abstract: Thyrotoxic periodic paralysis (TPP) is an acute complication of hyperthyroidism. Thyrotoxic periodic paralysis is treatable, and the management consists of potassium correction, beta-blockers, and antithyroid drug (ATD) therapy. While TPP is well described in the… read more here.
Keywords: paralysis; periodic paralysis; urticarial dermographia; tpp ... See more keywords
Thyroxine-induced periodic paralysis: a rare complication of nutritional supplements
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DOI: 10.1136/bcr-2018-227946
Abstract: The consumption of daily nutritional supplements has risen dramatically all over the world. Many people believe that dietary supplements, if not useful, are at least safe to fulfil small dietary gaps. Many nutritional supplements have… read more here.
Keywords: periodic paralysis; induced periodic; nutritional supplements; thyroxine induced ... See more keywords
Thyrotoxic periodic paralysis (TPP): assessment in the emergency department
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-245830
Abstract: A male patient aged in his early twenties presented to the emergency department (ED) with quadriparesis. He was ordinarily fit and well and had exercised and eaten a carbohydrate rich meal the evening before. His… read more here.
Keywords: paralysis tpp; emergency department; paralysis; periodic paralysis ... See more keywords
Novel CACNA1S mutation in hypokalaemic periodic paralysis
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-245952
Abstract: A 15-year-old girl was admitted to emergency department with an acute flaccid tetraparesis with no other symptoms. A history of recurrent similar episodes with spontaneous recovery was reported and no family history was known. Laboratory… read more here.
Keywords: novel cacna1s; cacna1s mutation; hypokalaemic periodic; paralysis ... See more keywords
Refractory familial hypokalaemic periodic paralysis leading to cardiovascular compromise
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DOI: 10.1136/bcr-2021-246674
Abstract: Familial hypokalaemic periodic paralysis (FHPP) is a rare neuromuscular disorder that is classified under periodic paralysis (PP), which is characterised by episodes of muscle weakness. Common triggers include intense exercise, fasting or consumption of carbohydrate-rich… read more here.
Keywords: refractory familial; hypokalaemic periodic; paralysis; familial hypokalaemic ... See more keywords
Hyperkalemic periodic paralysis with paramyotonia and the anaesthetic implications
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DOI: 10.1136/bcr-2022-251699
Abstract: Hyperkalemic periodic paralysis (HyperKPP) is a rare disease with significant anaesthetic implications. We compare two perioperative courses in the same patient. The first surgery resulted in paralysis and a protracted hospitalisation, while the second surgery… read more here.
Keywords: paramyotonia anaesthetic; paralysis; hyperkalemic periodic; periodic paralysis ... See more keywords
Diverse phenotype of hypokalaemic periodic paralysis within a family
Sign Up to like & getrecommendations! Published in 2017 at "Practical Neurology"
DOI: 10.1136/practneurol-2017-001677
Abstract: Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive.… read more here.
Keywords: periodic paralysis; hypokalaemic periodic; family; paralysis ... See more keywords