# Paralisia periódica > Página oficial: https://raras.org/doenca/paralisia-periodica > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 206976 — https://www.orpha.net/en/disease/detail/206976 - **CID-10**: G72.3 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica Doença neuromuscular rara caracterizada por episódios de fraqueza muscular flácida, podendo apresentar face triangular, retenção urinária e constipação. Associada a alterações eletrolíticas e cardíacas, como hipofosfatemia transitória e bloqueio atrioventricular. ## Epidemiologia e herança ## Sinais e sintomas (142 fenótipos HPO) - **Face triangular** — HPO: HP:0000325 - **Retenção urinária** — HPO: HP:0000016 - **Constipação** — HPO: HP:0002019 - **Doença de Graves** — HPO: HP:0100647 - **Hipofosfatemia transitória** — HPO: HP:0008285 - **Hiperidrose** — HPO: HP:0000975 - **Bloqueio atrioventricular de segundo grau** — HPO: HP:0011706 - **Intervalo PR encurtado** — HPO: HP:0005165 - **Hiporreflexia** — HPO: HP:0001265 - **Tireotoxicose com bócio difuso** — HPO: HP:0011784 - **Rigidez muscular** — HPO: HP:0003552 - **Tremor** — HPO: HP:0001337 - **Fibrilação ventricular** — HPO: HP:0001663 - **Perda de peso** — HPO: HP:0001824 - **Potássio urinário diminuído** — HPO: HP:0012364 - **Tireotoxicose com nódulo tireoidiano único tóxico** — HPO: HP:0011786 - **Fraqueza muscular do membro inferior** — HPO: HP:0007340 - **Obesidade** — HPO: HP:0001513 - **Hipomagnesemia** — HPO: HP:0002917 - **Tireotoxicose com bócio multinodular tóxico** — HPO: HP:0011785 - **Tetraplegia** — HPO: HP:0002445 - **Rabdomiólise** — HPO: HP:0003201 - **Sindactilia dos dedos 2-3 do pé** — HPO: HP:0004691 - **Ponte nasal ampla** — HPO: HP:0000431 - **Anormalidade da dentição** — HPO: HP:0000164 - **Formato facial anormal** — HPO: HP:0001999 - **Torsades de pointes** — HPO: HP:0001664 - **Cardiomiopatia dilatada** — HPO: HP:0001644 - **Atraso de crescimento** — HPO: HP:0001510 - **Convulsão** — HPO: HP:0001250 - **Escafocefalia** — HPO: HP:0030799 - **Anormalidade da cor dentária** — HPO: HP:0011073 - **Onda T anormal** — HPO: HP:0005135 - **Hipoplasia renal** — HPO: HP:0000089 - **Taquicardia ventricular polimórfica** — HPO: HP:0031677 - **Extrassístoles ventriculares polimórficas e politópicas** — HPO: HP:0006696 - **Hiperaldosteronismo** — HPO: HP:0000859 - **Disfunção tubular renal** — HPO: HP:0000124 - **Extrassístoles ventriculares** — HPO: HP:0006682 - **Atraso do neurodesenvolvimento** — HPO: HP:0012758 - _...e mais 102 sintomas. Ver https://raras.org/doenca/paralisia-periodica._ ## Genes associados (9) - **KCNJ2** — Inward rectifier potassium channel 2 [Disease-causing germline mutation(s) in] - Função: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:36149965, PubMed:7590287, PubMed:9490857). Their volt - **KCNJ5** — G protein-activated inward rectifier potassium channel 4 [Candidate gene tested in] - Função: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration o - **KCNJ18** — Inward rectifier potassium channel 18 [Candidate gene tested in] - Função: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration o - **KCNE3** — Potassium voltage-gated channel subfamily E member 3 [Candidate gene tested in] - Função: Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta sub - **GABRA3** — Gamma-aminobutyric acid receptor subunit alpha-3 [Candidate gene tested in] - Função: Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:16412217, PubMed:29053855). GABA-g - **MT-ATP6** — ATP synthase F(0) complex subunit a [Candidate gene tested in] - Função: Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generate - **MT-ATP8** — ATP synthase F(0) complex subunit 8 [Candidate gene tested in] - Função: Subunit 8, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generate - **CACNA1S** — Voltage-dependent L-type calcium channel subunit alpha-1S [Disease-causing germline mutation(s) in] - Função: Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important ro - **SCN4A** — Sodium channel protein type 4 subunit alpha [Disease-causing germline mutation(s) in] - Função: Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated s ## Ensaios clínicos ativos (2) - **NCT07194174** [RECRUITING]: Effect of Physical Training in Individuals With Hypokalemic and Hyperkalemic Periodic Paralysis — https://clinicaltrials.gov/study/NCT07194174 - **NCT06917430** [NOT_YET_RECRUITING]: Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence — https://clinicaltrials.gov/study/NCT06917430 - **NCT02582476** [TERMINATED]: Bumetanide in Hypokalaemic Periodic Paralysis — https://clinicaltrials.gov/study/NCT02582476 - **NCT00494507** [COMPLETED]: Hyper- and Hypokalemic Periodic Paralysis Study — https://clinicaltrials.gov/study/NCT00494507 - **NCT01939561** [COMPLETED]: Lamotrigine as Treatment of Myotonia — https://clinicaltrials.gov/study/NCT01939561 - **NCT02287363** [UNKNOWN]: Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis — https://clinicaltrials.gov/study/NCT02287363 - **NCT00443833** [COMPLETED]: Genetic Analysis of Thyrotoxic Periodic Paralysis — https://clinicaltrials.gov/study/NCT00443833 - **NCT00004802** [COMPLETED]: Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders — https://clinicaltrials.gov/study/NCT00004802 ## Doenças relacionadas (por similaridade fenotípica) - [Paralisia periódica genética](https://raras.org/doenca/paralisia-periodica-genetica) — ORPHA:371433 — 142 sintomas em comum - [Síndrome do QT longo de Romano-Ward](https://raras.org/doenca/sindrome-do-qt-longo-de-romano-ward) — ORPHA:101016 — 82 sintomas em comum - [Síndrome QT longo familiar congênito](https://raras.org/doenca/sindrome-qt-longo-familiar-congenito) — ORPHA:768 — 82 sintomas em comum - [Síndrome Andersen-Tawil](https://raras.org/doenca/sindrome-andersen-tawil) — ORPHA:37553 — 76 sintomas em comum - [Paralisia periódica tireotóxica](https://raras.org/doenca/paralisia-periodica-tireotoxica) — ORPHA:79102 — 42 sintomas em comum - [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 32 sintomas em comum - [Miopatia nemalínica](https://raras.org/doenca/miopatia-nemalinica) — ORPHA:607 — 30 sintomas em comum - [Deficiência qualitativa ou quantitativa da tropomiosina](https://raras.org/doenca/deficiencia-qualitativa-ou-quantitativa-da-tropomiosina) — ORPHA:284790 — 30 sintomas em comum - [Monossomia parcial do braço longo do cromossomo 14](https://raras.org/doenca/monossomia-parcial-do-braco-longo-do-cromossomo-14) — ORPHA:262110 — 30 sintomas em comum - [Síndrome Dubowitz](https://raras.org/doenca/sindrome-dubowitz) — ORPHA:235 — 29 sintomas em comum ## Importante O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa. Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas. --- **Citação sugerida**: Raras.org — Paralisia periódica. Disponível em: https://raras.org/doenca/paralisia-periodica **Formato HTML**: https://raras.org/doenca/paralisia-periodica **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=206976