# Miopatia nemalínica

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

## Identificadores

- **ORPHA**: 607 — https://www.orpha.net/en/disease/detail/607
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A miopatia nemalínica (NM) abrange um amplo espectro de miopatias caracterizadas por hipotonia, fraqueza e reflexos tendinosos profundos deprimidos ou ausentes, com evidência patológica de corpos nemalínicos (bastonetes) na biópsia muscular.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, Not applicable

## Sinais e sintomas (192 fenótipos HPO)

- **Estriamento da banda Z** — HPO: HP:0020203
- **Edema do dorso das mãos** — HPO: HP:0007514
- **Múltiplas fraturas pré-natais** — HPO: HP:0005855
- **Desconforto respiratório** — HPO: HP:0002098
- **Fraqueza fatigável dos músculos proximais dos membros** — HPO: HP:0030200
- **Hipocinesia** — HPO: HP:0002375
- **Paraproteinemia** — HPO: HP:0031047
- **Mialgia** — HPO: HP:0003326
- **Hipoplasia pulmonar** — HPO: HP:0002089
- **Parada cardíaca** — HPO: HP:0001695
- **Polegar aduzido** — HPO: HP:0001181
- **Costelas finas** — HPO: HP:0000883
- **Anormalidade do diafragma** — HPO: HP:0000775
- **Cifose** — HPO: HP:0002808
- **Fraqueza fatigável dos músculos respiratórios** — HPO: HP:0030196
- **Pescoço curto** — HPO: HP:0000470
- **Micropênis** — HPO: HP:0000054
- **Genu varum** — HPO: HP:0002970
- **Genu valgum** — HPO: HP:0002857
- **Atrofia muscular generalizada dos membros** — HPO: HP:0009055
- **Fraqueza fatigável dos músculos bulbares** — HPO: HP:0030192
- **Coordenação motora fina pobre** — HPO: HP:0007010
- **Cardiomegalia** — HPO: HP:0001640
- **Ptose** — HPO: HP:0000508
- **Fontanelas grandes** — HPO: HP:0000239
- **Hipospadia** — HPO: HP:0000047
- **Luxação do quadril** — HPO: HP:0002827
- **Aumento do conteúdo lipídico muscular** — HPO: HP:0009058
- **Sinais bulbares** — HPO: HP:0002483
- **Disfagia neuromuscular** — HPO: HP:0002068
- **Morfologia anormal do tórax** — HPO: HP:0000765
- **Aumento do tecido conjuntivo** — HPO: HP:0009025
- **Fraqueza muscular axial** — HPO: HP:0003327
- **Hipoventilação noturna** — HPO: HP:0002877
- **Fraqueza fatigável dos músculos distais dos membros** — HPO: HP:0030198
- **Incoordenação motora** — HPO: HP:0002312
- **Bradicinesia** — HPO: HP:0002067
- **Pé torto** — HPO: HP:0001883
- **Apneia** — HPO: HP:0002104
- **Orelhas de implantação baixa** — HPO: HP:0000369
- _...e mais 152 sintomas. Ver https://raras.org/doenca/miopatia-nemalinica._

## Genes associados (11)

- **LMOD3** — Leiomodin-3 [Disease-causing germline mutation(s) in]
  - Função: Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574)
- **NEB** — Nebulin [Disease-causing germline mutation(s) in]
  - Função: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin
- **ACTA1** — Actin, alpha skeletal muscle [Disease-causing germline mutation(s) in]
  - Função: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
- **TPM2** — Tropomyosin beta chain [Disease-causing germline mutation(s) in]
  - Função: Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction.
- **TPM3** — Tropomyosin alpha-3 chain [Disease-causing germline mutation(s) in]
  - Função: Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction.
- **MYPN** — Myopalladin [Disease-causing germline mutation(s) in]
  - Função: Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines
- **KLHL41** — Kelch-like protein 41 [Disease-causing germline mutation(s) in]
  - Função: Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thi
- **KLHL40** — Kelch-like protein 40 [Disease-causing germline mutation(s) in]
  - Função: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating
- **CFL2** — Cofilin-2 [Disease-causing germline mutation(s) in]
  - Função: Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3 (PubMed:19752190). It has the abili
- **KBTBD13** — Kelch repeat and BTB domain-containing protein 13 [Disease-causing germline mutation(s) in]
  - Função: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex
- **TNNT1** — Troponin T, slow skeletal muscle [Disease-causing germline mutation(s) in]
  - Função: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity

## Ensaios clínicos ativos (9)

- **NCT00272883** [RECRUITING]: Molecular and Genetic Studies of Congenital Myopathies — https://clinicaltrials.gov/study/NCT00272883
- **NCT07488806** [RECRUITING]: Natural History Study for Patients With Nemaline Myopathy in Spain — https://clinicaltrials.gov/study/NCT07488806
- **NCT07478172** [RECRUITING]: Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease — https://clinicaltrials.gov/study/NCT07478172
- **NCT06374719** [RECRUITING]: WiTNNess - TNNT1 Myopathy Natural History Study — https://clinicaltrials.gov/study/NCT06374719
- **NCT06157268** [RECRUITING]: The Natural History and Muscle Fatigability of Patients With Congenital Myopathies. — https://clinicaltrials.gov/study/NCT06157268
- **NCT06670378** [ACTIVE_NOT_RECRUITING]: Natural History Study for Patients With Nemaline Myopathy in the UK — https://clinicaltrials.gov/study/NCT06670378
- **NCT07201636** [NOT_YET_RECRUITING]: Natural History Study for Patients With Nemaline Myopathy in Belgium — https://clinicaltrials.gov/study/NCT07201636
- **NCT06791369** [NOT_YET_RECRUITING]: The Prevalence of RYR1-related Disease — https://clinicaltrials.gov/study/NCT06791369
- **NCT06774703** [NOT_YET_RECRUITING]: Nemaline Myopathy Clinical Research Network (NM-CTRN) — https://clinicaltrials.gov/study/NCT06774703
- **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

## Doenças relacionadas (por similaridade fenotípica)

- [Deficiências qualitativas e quantitativas da alfa-actina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-da-alfa-actina) — ORPHA:209059 — 171 sintomas em comum
- [Deficiências qualitativas e quantitativas de nebulina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-nebulina) — ORPHA:209182 — 171 sintomas em comum
- [Deficiência qualitativa ou quantitativa da tropomiosina](https://raras.org/doenca/deficiencia-qualitativa-ou-quantitativa-da-tropomiosina) — ORPHA:284790 — 156 sintomas em comum
- [Miopatia nemalínica típica](https://raras.org/doenca/miopatia-nemalinica-tipica) — ORPHA:171436 — 130 sintomas em comum
- [Miopatia nemalínica de início na infância](https://raras.org/doenca/miopatia-nemalinica-de-inicio-na-infancia) — ORPHA:171439 — 122 sintomas em comum
- [Miopatia nemalínica congênita grave](https://raras.org/doenca/miopatia-nemalinica-congenita-grave) — ORPHA:171430 — 102 sintomas em comum
- [Miopatia nemalínica intermediária](https://raras.org/doenca/miopatia-nemalinica-intermediaria) — ORPHA:171433 — 89 sintomas em comum
- [Miopatia centronuclear](https://raras.org/doenca/miopatia-centronuclear) — ORPHA:595 — 81 sintomas em comum
- [Deficiências qualitativas e quantitativas de titina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-titina) — ORPHA:209053 — 75 sintomas em comum
- [Atrofia muscular espinhal proximal](https://raras.org/doenca/atrofia-muscular-espinhal-proximal) — ORPHA:70 — 71 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 — Miopatia nemalínica. Disponível em: https://raras.org/doenca/miopatia-nemalinica
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