# Distrofia muscular progressiva

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

## Identificadores

- **ORPHA**: 206644 — https://www.orpha.net/en/disease/detail/206644
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Doença rara caracterizada por fraqueza muscular progressiva, podendo apresentar bolhas intraepidérmicas, atrofia da língua e obstrução das vias aéreas. Afeta também o coração com fibrose e extrassístoles ventriculares, além de neuropatia periférica e contraturas.

## Epidemiologia e herança


## Sinais e sintomas (657 fenótipos HPO)

- **Fraqueza muscular** — HPO: HP:0001324
- **Bolhas intraepidérmicas** — HPO: HP:0033802
- **Atrofia da língua** — HPO: HP:0012473
- **Obstrução das vias aéreas** — HPO: HP:0006536
- **Pernas inquietas** — HPO: HP:0012452
- **Contratura do cotovelo** — HPO: HP:0034391
- **Extrassístoles ventriculares** — HPO: HP:0006682
- **Neuropatia periférica** — HPO: HP:0009830
- **Anormalidade do músculo masseter** — HPO: HP:3000005
- **Fibrose cardíaca intersticial** — HPO: HP:0031329
- **Fraqueza do músculo fibular** — HPO: HP:0011727
- **Camptodactilia do dedo** — HPO: HP:0100490
- **Alfa-distroglicano reduzido na fibra muscular** — HPO: HP:0030099
- **Fraqueza muscular do membro inferior** — HPO: HP:0007340
- **Onda P ausente** — HPO: HP:0033122
- **Amiotrofia peitoral** — HPO: HP:0012037
- **Substituição gordurosa do músculo esquelético** — HPO: HP:0012548
- **Astenia** — HPO: HP:0025406
- **Pápula** — HPO: HP:0200034
- **Concentração elevada de creatina circulante** — HPO: HP:0034291
- **Oftalmoplegia externa parcial restritiva** — HPO: HP:0007867
- **Amiotrofia do membro inferior** — HPO: HP:0007210
- **Creatina quinase altamente elevada** — HPO: HP:0030234
- **Cognição construtiva visuoespacial prejudicada** — HPO: HP:0010794
- **Função ventricular esquerda anormal** — HPO: HP:0005162
- **Positividade para anticorpos do receptor de acetilcolina** — HPO: HP:0030208
- **Fraqueza muscular distal do membro inferior** — HPO: HP:0009053
- **Ecolalia** — HPO: HP:0010529
- **Anormalidade da abdução ocular** — HPO: HP:0011347
- **Comprometimento no funcionamento da personalidade** — HPO: HP:0031466
- **Anormalidade do músculo da língua** — HPO: HP:0040173
- **Distrofia muscular da cintura escapular/pélvica** — HPO: HP:0006785
- **Catarata subcapsular posterior** — HPO: HP:0007787
- **Descolamento exsudativo da retina** — HPO: HP:0012231
- **Dilatação ventricular direita** — HPO: HP:0005133
- **Bloqueio fascicular anterior esquerdo** — HPO: HP:0011711
- **Anormalidade do músculo orbicular da boca** — HPO: HP:3000010
- **Amiotrofia proximal dos membros inferiores** — HPO: HP:0008956
- **Contratura articular da mão** — HPO: HP:0009473
- **Insensibilidade à insulina** — HPO: HP:0008189
- _...e mais 617 sintomas. Ver https://raras.org/doenca/distrofia-muscular-progressiva._

## Genes associados (57)

- **CRPPA** — D-ribitol-5-phosphate cytidylyltransferase [Disease-causing germline mutation(s) in]
  - Função: Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:22522421, PubMed:26687144, PubMed:26923585, PubMed:27130732, PubMed:27601598). Catalyzes the formation of CDP-
- **TNPO3** — Transportin-3 [Disease-causing germline mutation(s) in]
  - Função: Importin, which transports target proteins into the nucleus (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Specifically mediates the nuclear import of splicing
- **FKTN** — Ribitol-5-phosphate transferase FKTN [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the transfer of a ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta
- **POMT2** — Protein O-mannosyl-transferase 2 [Candidate gene tested in]
  - Função: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is i
- **POMGNT1** — Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 [Disease-causing germline mutation(s) in]
  - Função: Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216, PubMed:28512129). Catalyzes the synth
- **JAG2** — Protein jagged-2 [Disease-causing germline mutation(s) in]
  - Função: Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity)
- **SGCB** — Beta-sarcoglycan [Disease-causing germline mutation(s) in]
  - Função: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix
- **LRP12** — Low-density lipoprotein receptor-related protein 12 [Disease-causing germline mutation(s) in]
  - Função: Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor
- **MYH7** — Myosin-7 [Disease-causing germline mutation(s) in]
  - Função: Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamenta
- **SYNE1** — Nesprin-1 [Disease-causing germline mutation(s) in]
  - Função: Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucle
- **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
- **TRIM32** — E3 ubiquitin-protein ligase TRIM32 [Disease-causing germline mutation(s) in]
  - Função: E3 ubiquitin ligase that plays a role in various biological processes including neural stem cell differentiation, innate immunity, inflammatory resonse and autophagy (PubMed:19349376, PubMed:31123703)
- **PLEC** — Plectin [Disease-causing germline mutation(s) in]
  - Função: Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane com
- **TMEM43** — Transmembrane protein 43 [Disease-causing germline mutation(s) in]
  - Função: May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By simi
- **TCAP** — Telethonin [Disease-causing germline mutation(s) in]
  - Função: Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk

## Medicamentos em desenvolvimento (4)

- MEXILETINE — Fase Phase 3 (Sodium channel alpha subunit blocker)
- DEFLAZACORT — Fase Phase 3 (Glucocorticoid receptor agonist)
- TIDEGLUSIB — Fase Phase 2 (Glycogen synthase kinase-3 beta inhibitor)
- STAMULUMAB — Fase Phase 1 (Growth/differentiation factor 8 inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0016106

## Ensaios clínicos ativos (30)

- **NCT07543016** [RECRUITING]: Amino Acids and Exercise in FSHD — https://clinicaltrials.gov/study/NCT07543016
- **NCT07467187** [RECRUITING]: Invasive Home Ventilation in Denmark — https://clinicaltrials.gov/study/NCT07467187
- **NCT06817382** [RECRUITING]: A Study to Investigate the Safety and Biodistribution of a Single Intrathecal (IT) Injection of INS1201 in Ambulatory Males With Duchenne Muscular Dystrophy (DMD) — https://clinicaltrials.gov/study/NCT06817382
- **NCT07287189** [RECRUITING]: Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients — https://clinicaltrials.gov/study/NCT07287189
- **NCT07127978** [RECRUITING]: A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy — https://clinicaltrials.gov/study/NCT07127978
- **NCT00004568** [RECRUITING]: Study of Inherited Neurological Disorders — https://clinicaltrials.gov/study/NCT00004568
- **NCT07521930** [RECRUITING]: Interfacing With NeuroTechnology to Expand Neural Throughput (INTENT) — https://clinicaltrials.gov/study/NCT07521930
- **NCT06839469** [RECRUITING]: Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders — https://clinicaltrials.gov/study/NCT06839469
- **NCT06503367** [RECRUITING]: Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy — https://clinicaltrials.gov/study/NCT06503367
- **NCT06280209** [RECRUITING]: A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular Dystrophy — https://clinicaltrials.gov/study/NCT06280209

## Doenças relacionadas (por similaridade fenotípica)

- [Distrofia miotônica](https://raras.org/doenca/distrofia-miotonica) — ORPHA:206647 — 168 sintomas em comum
- [Distrofia miotônica de Steinert](https://raras.org/doenca/distrofia-miotonica-de-steinert) — ORPHA:273 — 141 sintomas em comum
- [Miopatia nemalínica](https://raras.org/doenca/miopatia-nemalinica) — ORPHA:607 — 133 sintomas em comum
- [Distrofia muscular de Emery-Dreifuss](https://raras.org/doenca/distrofia-muscular-de-emery-dreifuss) — ORPHA:261 — 128 sintomas em comum
- [Deficiência qualitativa ou quantitativa da tropomiosina](https://raras.org/doenca/deficiencia-qualitativa-ou-quantitativa-da-tropomiosina) — ORPHA:284790 — 127 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 — 126 sintomas em comum
- [Miopatia distal autossômica dominante](https://raras.org/doenca/miopatia-distal-autossomica-dominante) — ORPHA:206650 — 125 sintomas em comum
- [Distrofia muscular Bethlem](https://raras.org/doenca/distrofia-muscular-bethlem) — ORPHA:610 — 120 sintomas em comum
- [Deficiências qualitativas e quantitativas de nebulina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-nebulina) — ORPHA:209182 — 118 sintomas em comum
- [Deficiências qualitativas e quantitativas da alfa-actina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-da-alfa-actina) — ORPHA:209059 — 118 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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