# Miopatia centronuclear

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

## Identificadores

- **ORPHA**: 595 — https://www.orpha.net/en/disease/detail/595
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A miopatia centronuclear (CNM) é uma doença neuromuscular hereditária caracterizada por características clínicas de uma miopatia congénita e núcleos centrados na biópsia muscular.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked recessive

## Sinais e sintomas (154 fenótipos HPO)

- **Oftalmoparesia** — HPO: HP:0000597
- **Vagina cega** — HPO: HP:0040314
- **Dificuldade para correr** — HPO: HP:0009046
- **Dificuldade para subir escadas** — HPO: HP:0003551
- **Anormalidade da musculatura do pé** — HPO: HP:0001436
- **Morfologia anormal da válvula cardíaca** — HPO: HP:0001654
- **Atraso no desenvolvimento da fala e da linguagem** — HPO: HP:0000750
- **Atraso no desenvolvimento motor grosso** — HPO: HP:0002194
- **Grande para a idade gestacional** — HPO: HP:0001520
- **Distúrbio da marcha** — HPO: HP:0001288
- **Hipertermia maligna** — HPO: HP:0002047
- **Asfixia neonatal** — HPO: HP:0012768
- **Mialgia induzida por exercício** — HPO: HP:0003738
- **Neuropatia axonal periférica** — HPO: HP:0003477
- **Arreflexia dos membros inferiores** — HPO: HP:0002522
- **Hemangioma cavernoso** — HPO: HP:0001048
- **Dedos longos** — HPO: HP:0100807
- **Diplegia facial** — HPO: HP:0001349
- **Incontinência urinária** — HPO: HP:0000020
- **EMG: resposta decremental do potencial de ação muscular composto à estimulação nervosa repetitiva** — HPO: HP:0003403
- **Orelha proeminente** — HPO: HP:0000411
- **Fraqueza muscular progressiva** — HPO: HP:0003323
- **Fraqueza muscular proximal nos membros inferiores** — HPO: HP:0008994
- **Macrocefalia ao nascimento** — HPO: HP:0004488
- **Hipertrofia do ventrículo esquerdo** — HPO: HP:0001712
- **Hipospadia penoscrotal** — HPO: HP:0000808
- **Anormalidade do olho** — HPO: HP:0000478
- **Infecções respiratórias recorrentes** — HPO: HP:0002205
- **Sucção pobre** — HPO: HP:0002033
- **Incapacidade de andar** — HPO: HP:0002540
- **Baixa pontuação APGAR** — HPO: HP:0030917
- **Formato facial anormal** — HPO: HP:0001999
- **Fibras musculares esqueléticas em colar** — HPO: HP:0031238
- **Pneumonia** — HPO: HP:0002090
- **Fraqueza fatigável dos músculos bulbares** — HPO: HP:0030192
- **Fibras tipo 1 relativamente menores que as fibras tipo 2** — HPO: HP:0003755
- **Fraqueza fatigável dos músculos da deglutição** — HPO: HP:0030195
- **Disartria** — HPO: HP:0001260
- **Oligodramnia** — HPO: HP:0001562
- **Amiotrofia generalizada** — HPO: HP:0003700
- _...e mais 114 sintomas. Ver https://raras.org/doenca/miopatia-centronuclear._

## Genes associados (11)

- **CCDC78** — Coiled-coil domain-containing protein 78 [Disease-causing germline mutation(s) in]
  - Função: Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification
- **MTMR14** — Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 [Candidate gene tested in]
  - Função: Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylino
- **MYF6** — Myogenic factor 6 [Candidate gene tested in]
  - Função: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein
- **MAMLD1** — Mastermind-like domain-containing protein 1 [Candidate gene tested in]
  - Função: Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ
- **TTN** — Titin [Candidate gene tested in]
  - Função: Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between t
- **RYR1** — Ryanodine receptor 1 [Candidate gene tested 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
- **BIN1** — Myc box-dependent-interacting protein 1 [Disease-causing germline mutation(s) in]
  - Função: Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma memb
- **DNM2** — Dynamin-2 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organization of the a
- **MAP3K20** — Mitogen-activated protein kinase kinase kinase 20 [Disease-causing germline mutation(s) in]
  - Função: Stress-activated component of a protein kinase signal transduction cascade that promotes programmed cell death in response to various stress, such as ribosomal stress, osmotic shock and ionizing radia
- **SPEG** — Striated muscle preferentially expressed protein kinase [Disease-causing germline mutation(s) in]
  - Função: Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells
- **MTM1** — Myotubularin [Disease-causing germline mutation(s) in]
  - Função: Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:10900271, PubMed:11001925, PubMed:12646134, PubMed:14

## Ensaios clínicos ativos (7)

- **NCT00272883** [RECRUITING]: Molecular and Genetic Studies of Congenital Myopathies — https://clinicaltrials.gov/study/NCT00272883
- **NCT07478172** [RECRUITING]: Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease — https://clinicaltrials.gov/study/NCT07478172
- **NCT07021820** [RECRUITING]: Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy — https://clinicaltrials.gov/study/NCT07021820
- **NCT05982119** [RECRUITING]: Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study — https://clinicaltrials.gov/study/NCT05982119
- **NCT04064307** [RECRUITING]: Myotubular and Centronuclear Myopathy Patient Registry — https://clinicaltrials.gov/study/NCT04064307
- **NCT06157268** [RECRUITING]: The Natural History and Muscle Fatigability of Patients With Congenital Myopathies. — https://clinicaltrials.gov/study/NCT06157268
- **NCT06791369** [NOT_YET_RECRUITING]: The Prevalence of RYR1-related Disease — https://clinicaltrials.gov/study/NCT06791369
- **NCT05099107** [COMPLETED]: Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment — https://clinicaltrials.gov/study/NCT05099107
- **NCT04033159** [TERMINATED]: Early Phase Human Drug Trial to Investigate Dynamin 101 (DYN101) in Patients ≥ 16 Years With Centronuclear Myopathies — https://clinicaltrials.gov/study/NCT04033159
- **NCT03351270** [COMPLETED]: Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies — https://clinicaltrials.gov/study/NCT03351270

## Doenças relacionadas (por similaridade fenotípica)

- [Miopatia nemalínica](https://raras.org/doenca/miopatia-nemalinica) — ORPHA:607 — 81 sintomas em comum
- [Deficiência qualitativa ou quantitativa da tropomiosina](https://raras.org/doenca/deficiencia-qualitativa-ou-quantitativa-da-tropomiosina) — ORPHA:284790 — 76 sintomas em comum
- [Deficiências qualitativas e quantitativas da alfa-actina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-da-alfa-actina) — ORPHA:209059 — 75 sintomas em comum
- [Deficiências qualitativas e quantitativas de nebulina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-nebulina) — ORPHA:209182 — 75 sintomas em comum
- [Deficiências qualitativas e quantitativas de titina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-titina) — ORPHA:209053 — 73 sintomas em comum
- [Miopatia centronuclear ligada ao X](https://raras.org/doenca/miopatia-centronuclear-ligada-ao-x) — ORPHA:596 — 70 sintomas em comum
- [Miopatia nemalínica típica](https://raras.org/doenca/miopatia-nemalinica-tipica) — ORPHA:171436 — 62 sintomas em comum
- [Miopatia nemalínica de início na infância](https://raras.org/doenca/miopatia-nemalinica-de-inicio-na-infancia) — ORPHA:171439 — 58 sintomas em comum
- [Síndromes miastênicas, congênitas, pós-sinápticas](https://raras.org/doenca/sindromes-miastenicas-congenitas-pos-sinapticas) — ORPHA:98913 — 57 sintomas em comum
- [Miopatia centronuclear autossômica recessiva](https://raras.org/doenca/miopatia-centronuclear-autossomica-recessiva) — ORPHA:169186 — 57 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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