# Miopatia distal

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

## Identificadores

- **ORPHA**: 599 — https://www.orpha.net/en/disease/detail/599
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Miopatia distal é um grupo de doenças dos músculos que têm como característica principal a perda de força e a diminuição (atrofia) dos músculos, começando nos pés e/ou nas mãos.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive

## Sinais e sintomas (255 fenótipos HPO)

- **Cisão de fibra muscular** — HPO: HP:0003555
- **Anormalidade do músculo masseter** — HPO: HP:3000005
- **Amiotrofia do membro superior** — HPO: HP:0009129
- **Parkinsonismo** — HPO: HP:0001300
- **Ansiedade** — HPO: HP:0000739
- **Depressão** — HPO: HP:0000716
- **Deterioração neurológica progressiva** — HPO: HP:0002344
- **Resposta de deglutição orofaríngea prejudicada** — HPO: HP:0031162
- **Palato alto e estreito** — HPO: HP:0002705
- **Pneumonia aspirativa recorrente** — HPO: HP:0002100
- **Fraqueza dos músculos da língua** — HPO: HP:0000183
- **Fala nasal, disártrica** — HPO: HP:0008376
- **Ptose progressiva** — HPO: HP:0007838
- **Fraqueza fatigável dos músculos bulbares** — HPO: HP:0030192
- **Oftalmoplegia externa progressiva** — HPO: HP:0000590
- **Anormalidade da musculatura facial** — HPO: HP:0000301
- **Mastigação prejudicada** — HPO: HP:0005216
- **Contratura do cotovelo** — HPO: HP:0034391
- **Fraqueza fatigável dos músculos mastigatórios** — HPO: HP:0030193
- **Morfologia anormal da musculatura dos membros inferiores** — HPO: HP:0001437
- **Sinais pseudobulbares** — HPO: HP:0002200
- **Contratura do tornozelo** — HPO: HP:0034677
- **Reflexos tendíneos reduzidos** — HPO: HP:0001315
- **Incontinência urinária** — HPO: HP:0000020
- **Dor nas costas** — HPO: HP:0003418
- **Amiotrofia do membro inferior** — HPO: HP:0007210
- **Incontinência intestinal** — HPO: HP:0002607
- **Deficiência auditiva neurossensorial progressiva** — HPO: HP:0000408
- **Anormalidade do músculo orbicular da boca** — HPO: HP:3000010
- **Paraplegia** — HPO: HP:0010550
- **Disfagia orofaríngea** — HPO: HP:0200136
- **Miopatia de minicore** — HPO: HP:0003789
- **Mitocôndrias anormais no tecido muscular** — HPO: HP:0008316
- **Pé torto cavo equinovaro** — HPO: HP:0004696
- **Hipercolesterolemia** — HPO: HP:0003124
- **Expressão anormal de proteína da fibra muscular** — HPO: HP:0030089
- **Fraqueza do músculo orbicular do olho** — HPO: HP:0012507
- **Dispneia de esforço** — HPO: HP:0002875
- **Constituição esguia** — HPO: HP:0001533
- **Amiotrofia esternocleidomastoidea** — HPO: HP:0012036
- _...e mais 215 sintomas. Ver https://raras.org/doenca/miopatia-distal._

## Genes associados (24)

- **DYSF** — Dysferlin [Disease-causing germline mutation(s) in]
  - Função: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits
- **NEB** — Nebulin [Candidate gene tested 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
- **NUTM2B-AS1** [Candidate gene tested in]
- **VCP** — Transitional endoplasmic reticulum ATPase [Candidate gene tested in]
  - Função: Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membra
- **KLHL9** — Kelch-like protein 9 [Candidate gene tested in]
  - Função: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the
- **MATR3** — Matrin-3 [Candidate gene tested in]
  - Função: May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear r
- **ABCD3** — ATP-binding cassette sub-family D member 3 [Candidate gene tested in]
  - Função: Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-
- **ADSS1** — Adenylosuccinate synthetase isozyme 1 [Disease-causing germline mutation(s) in]
  - Função: Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes
- **ANO5** — Anoctamin-5 [Disease-causing germline mutation(s) in]
  - Função: Plays a role in plasma membrane repair in a process involving annexins (PubMed:33496727). Does not exhibit calcium-activated chloride channel (CaCC) activity
- **HNRNPA1** — Heterogeneous nuclear ribonucleoprotein A1 [Disease-causing germline mutation(s) in]
  - Função: Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and modulation of splice site selection (PubMed:17371836). Plays a role in the s
- **TIA1** — Cytotoxic granule associated RNA binding protein TIA1 [Disease-causing germline mutation(s) in]
  - Função: RNA-binding protein involved in the regulation of alternative pre-RNA splicing and mRNA translation by binding to uridine-rich (U-rich) RNA sequences (PubMed:11106748, PubMed:12486009, PubMed:17488725
- **RILPL1** — RILP-like protein 1 [Disease-causing germline mutation(s) in]
  - Função: Plays a role in the regulation of cell shape and polarity (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). Neuroprotect
- **FLNC** — Filamin-C [Disease-causing germline mutation(s) in]
  - Função: Muscle-specific filamin, which plays a central role in sarcomere assembly and organization (PubMed:34405687). Critical for normal myogenesis, it probably functions as a large actin-cross-linking prote
- **MYOT** — Myotilin [Disease-causing germline mutation(s) in]
  - Função: Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells
- **SMPX** — Small muscular protein [Disease-causing germline mutation(s) in]
  - Função: Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair

## Medicamentos em desenvolvimento (1)

- DEFLAZACORT — Fase Phase 2 (Glucocorticoid receptor agonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0018949

## Ensaios clínicos ativos (1)

- **NCT07502989** [RECRUITING]: Muscle Health Measurements Using Electrical Impedance Myography — https://clinicaltrials.gov/study/NCT07502989
- **NCT06507215** [COMPLETED]: Dysferlinopathy Protein in Peripheral Blood Monocytes. — https://clinicaltrials.gov/study/NCT06507215
- **NCT02736188** [TERMINATED]: Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) — https://clinicaltrials.gov/study/NCT02736188
- **NCT04671472** [COMPLETED]: Efficacy Confirmation Study of NPC-09 — https://clinicaltrials.gov/study/NCT04671472
- **NCT02377921** [COMPLETED]: Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) — https://clinicaltrials.gov/study/NCT02377921
- **NCT02731690** [TERMINATED]: A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment — https://clinicaltrials.gov/study/NCT02731690
- **NCT01784679** [COMPLETED]: GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) — https://clinicaltrials.gov/study/NCT01784679

## Doenças relacionadas (por similaridade fenotípica)

- [Miopatia distal autossômica dominante](https://raras.org/doenca/miopatia-distal-autossomica-dominante) — ORPHA:206650 — 174 sintomas em comum
- [Miopatia nemalínica](https://raras.org/doenca/miopatia-nemalinica) — ORPHA:607 — 91 sintomas em comum
- [Distrofia muscular das cinturas dos membros autossômica dominante](https://raras.org/doenca/distrofia-muscular-das-cinturas-dos-membros-autossomica-dominante) — ORPHA:102014 — 86 sintomas em comum
- [Miopatia oculofaringodistal](https://raras.org/doenca/miopatia-oculofaringodistal) — ORPHA:98897 — 85 sintomas em comum
- [Deficiência qualitativa ou quantitativa da tropomiosina](https://raras.org/doenca/deficiencia-qualitativa-ou-quantitativa-da-tropomiosina) — ORPHA:284790 — 84 sintomas em comum
- [Miopatia de inclusão](https://raras.org/doenca/miopatia-de-inclusao) — ORPHA:206662 — 83 sintomas em comum
- [Deficiências qualitativas e quantitativas da alfa-actina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-da-alfa-actina) — ORPHA:209059 — 82 sintomas em comum
- [Deficiências qualitativas e quantitativas de nebulina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-nebulina) — ORPHA:209182 — 82 sintomas em comum
- [Deficiências qualitativas e quantitativas de titina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-titina) — ORPHA:209053 — 76 sintomas em comum
- [Deficiências qualitativas e quantitativas de proteína miofibrilares](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-proteina-miofibrilares) — ORPHA:209038 — 75 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 distal. Disponível em: https://raras.org/doenca/miopatia-distal
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