# Canalopatia muscular

> Página oficial: https://raras.org/doenca/canalopatia-muscular
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 71864 — https://www.orpha.net/en/disease/detail/71864
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma doença que afeta os canais das células e que atinge os músculos.

## Epidemiologia e herança


## Sinais e sintomas (271 fenótipos HPO)

- **Entalhe antegonial da mandíbula** — HPO: HP:0003779
- **Oftalmoplegia** — HPO: HP:0000602
- **Mioglobinúria** — HPO: HP:0002913
- **Espasticidade dos músculos faciais** — HPO: HP:0002491
- **Atraso de crescimento** — HPO: HP:0001510
- **Laringoespasmo** — HPO: HP:0025425
- **Braquidactilia** — HPO: HP:0001156
- **Distúrbio da marcha** — HPO: HP:0001288
- **Sequência de acinesia fetal** — HPO: HP:0001989
- **Fadiga** — HPO: HP:0012378
- **Rabdomiólise** — HPO: HP:0003201
- **Síncope** — HPO: HP:0001279
- **Pé curto** — HPO: HP:0001773
- **Hipotonia axial** — HPO: HP:0008936
- **Micrognatia** — HPO: HP:0000347
- **Criptorquidia** — HPO: HP:0000028
- **Hiperlordose lombar** — HPO: HP:0002938
- **Aperto no peito** — HPO: HP:0031352
- **Prolapso da valva mitral** — HPO: HP:0001634
- **Fibras musculares esqueléticas com núcleos internos** — HPO: HP:0031237
- **Arritmia** — HPO: HP:0011675
- **Episódios de apneia na infância** — HPO: HP:0005949
- **Miopatia com fenômeno de aquecimento** — HPO: HP:0003740
- **Dor torácica** — HPO: HP:0100749
- **Paresia ao frio** — HPO: HP:0031372
- **Persistência de dentes decíduos** — HPO: HP:0006335
- **Fraqueza muscular** — HPO: HP:0001324
- **Lesão renal aguda** — HPO: HP:0001919
- **Reflexos tendíneos reduzidos** — HPO: HP:0001315
- **Oligodontia** — HPO: HP:0000677
- **Hipoplasia renal** — HPO: HP:0000089
- **Hiperaldosteronismo** — HPO: HP:0000859
- **Blefarofimose** — HPO: HP:0000581
- **Edema** — HPO: HP:0000969
- **Comprometimento sensorial distal** — HPO: HP:0002936
- **Espasmo muscular** — HPO: HP:0003394
- **Fissura palpebral curta** — HPO: HP:0012745
- **Ramos mandibulares curtos** — HPO: HP:0003778
- **Proliferação mitocondrial de cardiomiócitos** — HPO: HP:0031320
- **Onda T anormal** — HPO: HP:0005135
- _...e mais 231 sintomas. Ver https://raras.org/doenca/canalopatia-muscular._

## Genes associados (7)

- **RYR1** — Ryanodine receptor 1 [Disease-causing germline mutation(s) in]
  - Função: Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering muscle contraction following
- **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
- **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
- **CLCN1** — Chloride channel protein 1 [Disease-causing germline mutation(s) in]
  - Função: Voltage-gated chloride channel involved in skeletal muscle excitability. Generates most of the plasma membrane chloride conductance in skeletal muscle fibers, stabilizes the resting membrane potential
- **CACNA1S** — Voltage-dependent L-type calcium channel subunit alpha-1S [Candidate gene tested 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
- **CNGB3** — Cyclic nucleotide-gated channel beta-3 [Disease-causing germline mutation(s) in]
  - Função: Pore-forming subunit of the cone cyclic nucleotide-gated channel. Mediates cone photoresponses at bright light converting transient changes in intracellular cGMP levels into electrical signals. In the
- **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

## Ensaios clínicos ativos (4)

- **NCT02413450** [ENROLLING_BY_INVITATION]: Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias — https://clinicaltrials.gov/study/NCT02413450
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168
- **NCT00521794** [COMPLETED]: Characteristics of Andersen-Tawil Syndrome — https://clinicaltrials.gov/study/NCT00521794
- **NCT01250704** [UNKNOWN]: Inherited Myokymia: A Clinical and Genetic Study of a Family — https://clinicaltrials.gov/study/NCT01250704

## Doenças relacionadas (por similaridade fenotípica)

- [Paralisia periódica](https://raras.org/doenca/paralisia-periodica) — ORPHA:206976 — 111 sintomas em comum
- [Paralisia periódica genética](https://raras.org/doenca/paralisia-periodica-genetica) — ORPHA:371433 — 111 sintomas em comum
- [Canalopatia neurológica muscular por anomalia do canal de rianodina genética](https://raras.org/doenca/canalopatia-neurologica-muscular-por-anomalia-do-canal-de-rianodina-genetica) — ORPHA:98742 — 105 sintomas em comum
- [Síndrome do QT longo de Romano-Ward](https://raras.org/doenca/sindrome-do-qt-longo-de-romano-ward) — ORPHA:101016 — 86 sintomas em comum
- [Síndrome QT longo familiar congênito](https://raras.org/doenca/sindrome-qt-longo-familiar-congenito) — ORPHA:768 — 86 sintomas em comum
- [Deficiência qualitativa ou quantitativa da tropomiosina](https://raras.org/doenca/deficiencia-qualitativa-ou-quantitativa-da-tropomiosina) — ORPHA:284790 — 82 sintomas em comum
- [Miopatia nemalínica](https://raras.org/doenca/miopatia-nemalinica) — ORPHA:607 — 79 sintomas em comum
- [Deficiências qualitativas e quantitativas de selenoproteína N1](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-selenoproteina-n1) — ORPHA:209193 — 79 sintomas em comum
- [Síndrome Andersen-Tawil](https://raras.org/doenca/sindrome-andersen-tawil) — ORPHA:37553 — 76 sintomas em comum
- [Miopatia multiminicore](https://raras.org/doenca/miopatia-multiminicore) — ORPHA:598 — 76 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.

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**Citação sugerida**: Raras.org — Canalopatia muscular. Disponível em: https://raras.org/doenca/canalopatia-muscular
**Formato HTML**: https://raras.org/doenca/canalopatia-muscular
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=71864