Diverse phenotype of hypokalaemic periodic paralysis within a family

Chalissery, Albi; Munteanu, Tudor; Langan, Yvonne; Brett, Francesca; Redmond, Janice

doi:10.1136/practneurol-2017-001677

Cited by 8 publications

(7 citation statements)

References 29 publications

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“…In others, the mutation is in the alphasubunit of the sodium channel gene on chromosome 17 (HypoPP type II). HypoPP1 differs from HypoPP2 by; (a) earlier age of onset (10 y), the longer duration of manifestations (20 h), and more tendency to have progressive disease with fixed proximal weakness (about 70%), compared with HypoPP2 patients (16 y, 1 h, none and even may disappear by age of 50 years) 8 . Moreover; (a) muscle biopsy shows vacuolar myopathy in hypoPP1 compared to tubular aggregates in hypoPP2, and (b) acetazolamide in decrease frequency of attacks in hypoPP1 9 .…”

Section: Discussionmentioning

confidence: 96%

Hypokalemic periodic paralysis: an underestimated autosomal-dominant disease with variable phenotypic presentations

El-Reshaid

Al-Bader

2021

J. Drug Delivery Ther.

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Periodic paralysis (PP) diseases are autosomal dominant disorders due to gene-mutations that manifests with episodic muscle weakness and/or paralysis. Their mutations result in faulty ion-leaks that result in sustained muscle depolarization and inexcitability. The group include; hyperkalemic PP, hypokalemic PP (HypoPP type I & II), normokalemic PP, thyrotoxic PP, Paramyotonia congenita and Andersen-Tawil syndrome. The hypoPP is the most common disorder yet is underestimated in prevalence due to missed diagnosis mimicking hysterical disorders and neurological diseases as well as the hypokalemic syndromes (Bartter, Gitelman and renal tubular acidosis). Moreover, and due to their considerable gene-penetrance, their phenotypic spectrum ranges from infrequent attacks to progressive muscular failure. In this case report we present a patient with missed diagnosis for years and describe the algorithm of his diagnosis and management. Keywords: chanellopathies, diagnosis, hypokalemia, periodic paralysis, treatment.

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Section: Discussionmentioning

confidence: 96%

Hypokalemic periodic paralysis: an underestimated autosomal-dominant disease with variable phenotypic presentations

El-Reshaid

Al-Bader

2021

J. Drug Delivery Ther.

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“…Sólo una mujer portadora era asintomática. 11 A menudo se observan elevaciones transitorias de la CPK sérica durante los episodios. 1 Las arritmias car-diacas no son frecuentes, aunque han sido notificadas.…”

Section: Discussionunclassified

Variante patogénica CACNA1S como causa de parálisis periódica hipocalémica

Bermejo-Padilla¹,

León-Torres²,

Prieto-Rivera³

et al. 2022

Revista Mexicana De Pediatría

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RESUMENIntroducción: se presenta el caso de un paciente con parálisis periódica hipocalémica (PPH), que es un tipo de canalopatía muscular ocasionada por una alteración genética. Caso clínico: adolescente masculino de 13 años, sin antecedentes familiares de importancia. Inició con episodios de parálisis flácida de las cuatro extremidades al despertar, de duración variable, sin compromiso del estado de conciencia. En uno de los episodios se documentó hipocalemia grave (1.6 mmol/L), con recuperación posterior a corrección electrolítica. Se sospechó de PPH, por lo que se solicitó panel genético y se identificó variante patogénica heterocigota en el gen CACNA1S, clasificándose como PPH tipo 1. Conclusiones: la PPH es un desafío diagnóstico y terapéutico; su identificación temprana puede ayudar a estos pacientes a reducir las comorbilidades.

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“…Typically, hyperkalemic attacks are associated with elevated ictal serum potassium level, but many children have normal potassium level during attacks. For those reason, laboratory approach is important to distinguish them [1,16,17].…”

Section: Malignant Hyperthermiamentioning

confidence: 99%

Periodic Paralysis: A Case Report of Normokalemic Presentation in a Young Girl

Ceglie¹,

Patacchiola²,

Iannucci³

et al. 2021

BJSTR

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The skeletal muscle channelopathies represent a rare group of neuromuscular disorders which are caused by genetic mutations regarding voltage-gated ion channels, which play an important role in muscle membrane depolarization. Muscle channelopathies are broadly divided into 2 main categories: nondystrophic myotonias (NDM) and periodic paralysis (PP). Periodic paralysis (PP) are rare autosomal dominant neuromuscular disorders, characterized clinically by periodic attacks of muscle weakness in concomitance with serum potassium level alterations. It is possible to distinguish normokalemic, hyperkalemic and hypokalemic paralysis. PP is caused by genetic mutations in voltage-gate ion channels like sodium, potassium, and calcium channels, which are determinant for muscle membrane depolarization. The most common genes involved in pathogenesis are CACN1S, SCN4A and KCNJ2, encoding calcium, sodium, and potassium channels (Table 1). Moreover, paralysis related to serum potassium values may also occur in thyreotoxicosis [1], Liddle syndrome, Gitelman syndrome, primary hyperaldosteronism, and acid-base balance disorders. In this case report, we describe a case of transient paralysis and muscular weakness of both upper and lower limbs after a high carbohydrate meal on the day before clinical presentation. Potassium level was normal at the hospital admission, while high levels of creatine phosphokinase, (CPK), Myoglobin, and Aspartate Aminotransferases (AST) was observed.A missense mutation in CACNA1S exon 11 was identified. This case supports the importance of a correct family history, muscular enzyme analysis and genetic study in a normokalemic presentation of periodic paralysis.

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Diverse phenotype of hypokalaemic periodic paralysis within a family

Cited by 8 publications

References 29 publications

Hypokalemic periodic paralysis: an underestimated autosomal-dominant disease with variable phenotypic presentations

Hypokalemic periodic paralysis: an underestimated autosomal-dominant disease with variable phenotypic presentations

Variante patogénica CACNA1S como causa de parálisis periódica hipocalémica

Periodic Paralysis: A Case Report of Normokalemic Presentation in a Young Girl

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