# Atrofia muscular bulbo-espinhal

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

## Identificadores

- **ORPHA**: 206701 — https://www.orpha.net/en/disease/detail/206701
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Doença neurodegenerativa rara que afeta neurônios motores, causando fraqueza muscular progressiva, espasticidade e, em alguns casos, convulsões e anomalias cerebelares. Pode apresentar atraso motor, luxação do quadril e outras malformações.

## Epidemiologia e herança


## Sinais e sintomas (131 fenótipos HPO)

- **Aplasia/Hipoplasia do cerebelo** — HPO: HP:0007360
- **Convulsão** — HPO: HP:0001250
- **Atraso motor** — HPO: HP:0001270
- **Dilatação dos ventrículos laterais** — HPO: HP:0006956
- **Espasticidade** — HPO: HP:0001257
- **Rabdomiólise induzida por infecção viral** — HPO: HP:0003558
- **Luxação do quadril** — HPO: HP:0002827
- **Morfologia anormal do pé** — HPO: HP:0001760
- **Polidrâmnio** — HPO: HP:0001561
- **Nistagmo** — HPO: HP:0000639
- **Hipertonia do membro inferior** — HPO: HP:0006895
- **Estrabismo** — HPO: HP:0000486
- **Atrofia muscular espinhal** — HPO: HP:0007269
- **Fraqueza muscular intercostal** — HPO: HP:0004878
- **Artrogripose múltipla congênita** — HPO: HP:0002804
- **Hipertonia de membro superior** — HPO: HP:0200049
- **EMG: alterações neuropáticas** — HPO: HP:0003445
- **Convulsões febris simples** — HPO: HP:0011171
- **Atrofia óptica** — HPO: HP:0000648
- **Deficiência auditiva** — HPO: HP:0000365
- **Atraso no desenvolvimento motor grosso** — HPO: HP:0002194
- **Déficit de crescimento** — HPO: HP:0001508
- **Pregas palmares transversas únicas bilaterais** — HPO: HP:0007598
- **Atrofia cortical cerebral** — HPO: HP:0002120
- **Hipoplasia da ponte** — HPO: HP:0012110
- **Fasciculações** — HPO: HP:0002380
- **Perda visual progressiva** — HPO: HP:0000529
- **Controle cefálico pobre** — HPO: HP:0002421
- **Infecções recorrentes** — HPO: HP:0002719
- **Coreoatetose** — HPO: HP:0001266
- **Resposta de deglutição orofaríngea prejudicada** — HPO: HP:0031162
- **Dificuldades alimentares na infância** — HPO: HP:0008872
- **Fraqueza muscular** — HPO: HP:0001324
- **Inquietação** — HPO: HP:0000711
- **Insuficiência respiratória** — HPO: HP:0002878
- **Hipoplasia cerebelar** — HPO: HP:0001321
- **Hipoplasia do corpo caloso** — HPO: HP:0002079
- **Espasticidade apendicular** — HPO: HP:0034353
- **Coreia** — HPO: HP:0002072
- **Prega palmar transversa única** — HPO: HP:0000954
- _...e mais 91 sintomas. Ver https://raras.org/doenca/atrofia-muscular-bulbo-espinhal._

## Genes associados (11)

- **AGTPBP1** — Cytosolic carboxypeptidase 1 [Candidate gene tested in]
  - Função: Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins (PubMed:22170066, PubMed:24022482, PubMed:30420557). Catalyzes the removal of polyglutamate sid
- **EXOSC3** — Exosome complex component RRP40 [Disease-causing germline mutation(s) in]
  - Função: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA
- **TSEN2** — tRNA-splicing endonuclease subunit Sen2 [Disease-causing germline mutation(s) in]
  - Função: Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at th
- **TSEN54** — tRNA-splicing endonuclease subunit Sen54 [Disease-causing germline mutation(s) in]
  - Função: Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice site
- **EXOSC8** — Exosome complex component RRP43 [Disease-causing germline mutation(s) in]
  - Função: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA
- **EXOSC9** — Exosome complex component RRP45 [Candidate gene tested in]
  - Função: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA
- **VRK1** — Serine/threonine-protein kinase VRK1 [Disease-causing germline mutation(s) in]
  - Função: Serine/threonine kinase involved in the regulation of key cellular processes including the cell cycle, nuclear condensation, transcription regulation, and DNA damage response (PubMed:14645249, PubMed:
- **TSEN15** — tRNA-splicing endonuclease subunit Sen15 [Disease-causing germline mutation(s) in]
  - Função: Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice site
- **SLC25A46** — Mitochondrial outer membrane protein SLC25A46 [Candidate gene tested in]
  - Função: Transmembrane protein of the mitochondrial outer membrane that controls mitochondrial organization (PubMed:26168012, PubMed:27390132, PubMed:27543974). May regulate the assembly of the MICOS (mitochon
- **SEPSECS** — O-phosphoseryl-tRNA(Sec) selenium transferase [Disease-causing germline mutation(s) in]
  - Função: Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis
- **TSEN34** — tRNA-splicing endonuclease subunit Sen34 [Disease-causing germline mutation(s) in]
  - Função: Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at th

## Ensaios clínicos ativos (9)

- **NCT04944940** [RECRUITING]: Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA) — https://clinicaltrials.gov/study/NCT04944940
- **NCT05335876** [RECRUITING]: Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials — https://clinicaltrials.gov/study/NCT05335876
- **NCT05966038** [RECRUITING]: ALS/MND Natural History Study Data Repository — https://clinicaltrials.gov/study/NCT05966038
- **NCT03555578** [RECRUITING]: Specified Drug-Use Survey of Leuprorelin Acetate Injection Kit 11.25 mg "All-Case Investigation: Spinal and Bulbar Muscular Atrophy (SBMA)" — https://clinicaltrials.gov/study/NCT03555578
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168
- **NCT06862596** [RECRUITING]: Clinical Trial of Mexiletine Hydrochloride for Spinal and Bulbar Muscular Atrophy — https://clinicaltrials.gov/study/NCT06862596
- **NCT04292574** [RECRUITING]: UK SMA Patient Registry — https://clinicaltrials.gov/study/NCT04292574
- **NCT06169046** [RECRUITING]: A Placebo-controlled Study of Clenbuterol in Spinal and Bulbar Muscular Atrophy — https://clinicaltrials.gov/study/NCT06169046
- **NCT07443449** [ACTIVE_NOT_RECRUITING]: International SBMA Project (KDA) — https://clinicaltrials.gov/study/NCT07443449
- **NCT06411912** [COMPLETED]: A Study of NIDO-361 in Patients With SBMA — https://clinicaltrials.gov/study/NCT06411912

## Doenças relacionadas (por similaridade fenotípica)

- [Hipoplasia pontocerebelar tipo 2](https://raras.org/doenca/hipoplasia-pontocerebelar-tipo-2) — ORPHA:2524 — 87 sintomas em comum
- [Hipoplasia pontocerebelar tipo 1](https://raras.org/doenca/hipoplasia-pontocerebelar-tipo-1) — ORPHA:2254 — 75 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 53 sintomas em comum
- [Síndrome epiléptico de início neonatal-infantil](https://raras.org/doenca/sindrome-epileptico-de-inicio-neonatal-infantil) — ORPHA:693802 — 50 sintomas em comum
- [Polimicrogiria bilateral](https://raras.org/doenca/polimicrogiria-bilateral) — ORPHA:268940 — 48 sintomas em comum
- [Microcefalia isolada congênita](https://raras.org/doenca/microcefalia-isolada-congenita) — ORPHA:2512 — 46 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 46 sintomas em comum
- [Encefalopatia epiléptica de início precoce inespecífica](https://raras.org/doenca/encefalopatia-epileptica-de-inicio-precoce-inespecifica) — ORPHA:442835 — 46 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 45 sintomas em comum
- [Ataxia espástica autossômica recessiva](https://raras.org/doenca/ataxia-espastica-autossomica-recessiva) — ORPHA:316240 — 42 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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