# Distrofia facioescapuloumeral

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

## Identificadores

- **ORPHA**: 269 — https://www.orpha.net/en/disease/detail/269
- **CID-10**: G71.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A distrofia muscular facioscapulohumeral (FSHD) é caracterizada por fraqueza muscular progressiva com envolvimento focal dos músculos da face, ombro e braço.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (60 fenótipos HPO)

- **Telangiectasia retiniana** — HPO: HP:0007763
- **Fraqueza muscular da cintura pélvica** — HPO: HP:0003749
- **Deficiência auditiva** — HPO: HP:0000365
- **Pneumonia por aspiração** — HPO: HP:0011951
- **Dificuldade para subir escadas** — HPO: HP:0003551
- **Fibras musculares anguladas** — HPO: HP:0034045
- **Fraqueza muscular de membro superior** — HPO: HP:0003484
- **Fraqueza dos músculos do pescoço** — HPO: HP:0000467
- **Fraqueza muscular proximal** — HPO: HP:0003701
- **Fadiga** — HPO: HP:0012378
- **Hipertrofia do músculo da panturrilha** — HPO: HP:0008981
- **Deficiência intelectual** — HPO: HP:0001249
- **Disfagia** — HPO: HP:0002015
- **Incapacidade de protrair os lábios** — HPO: HP:6001010
- **Incapacidade de inflar as bochechas** — HPO: HP:6001102
- **Fraqueza da musculatura facial** — HPO: HP:0030319 (Frequente (79-30%))
- **Ceratite** — HPO: HP:0000491 (Frequente (79-30%))
- **Insuficiência respiratória** — HPO: HP:0002093 (Ocasional (29-5%))
- **Deficiência auditiva neurossensorial** — HPO: HP:0000407 (Frequente (79-30%))
- **Concentração elevada de creatina quinase circulante** — HPO: HP:0003236 (Muito frequente (99-80%))
- **Perda visual** — HPO: HP:0000572 (Ocasional (29-5%))
- **Descolamento de retina** — HPO: HP:0000541 (Ocasional (29-5%))
- **Arritmia supraventricular** — HPO: HP:0005115 (Ocasional (29-5%))
- **Sinal de Beevor** — HPO: HP:0030664 (Frequente (79-30%))
- **Hiperlordose** — HPO: HP:0003307 (Muito frequente (99-80%))
- **Clavículas retas** — HPO: HP:0006587 (Frequente (79-30%))
- **Marcha escarvante** — HPO: HP:0003376 (Frequente (79-30%))
- **Fraqueza muscular distal de membro superior** — HPO: HP:0008959 (Frequente (79-30%))
- **Morfologia vascular retiniana anormal** — HPO: HP:0008046 (Frequente (79-30%))
- **Escoliose** — HPO: HP:0002650 (Frequente (79-30%))
- **Camptocormia** — HPO: HP:0100595 (Frequente (79-30%))
- **Fraqueza muscular progressiva** — HPO: HP:0003323 (Muito frequente (99-80%))
- **Escápula alada** — HPO: HP:0003691 (Muito frequente (99-80%))
- **Defeito ventilatório restritivo** — HPO: HP:0002091 (Frequente (79-30%))
- **Dor crônica** — HPO: HP:0012532 (Frequente (79-30%))
- **Fácies em máscara** — HPO: HP:0000298 (Muito frequente (99-80%))
- **Fraqueza muscular da parede abdominal** — HPO: HP:0009023 (Frequente (79-30%))
- **Expressão facial diminuída** — HPO: HP:0004673 (Frequente (79-30%))
- **Lagoftalmo noturno** — HPO: HP:0030002 (Frequente (79-30%))
- **Conjuntivite** — HPO: HP:0000509 (Frequente (79-30%))
- _...e mais 20 sintomas. Ver https://raras.org/doenca/distrofia-facioescapuloumeral._

## Genes associados (6)

- **DNMT3B** — DNA (cytosine-5)-methyltransferase 3B [Modifying germline mutation in]
  - Função: Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May pre
- **LRIF1** — Ligand-dependent nuclear receptor-interacting factor 1 [Disease-causing germline mutation(s) in]
  - Função: Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin (PubMed:23542155). Also able to repress the ligand-induced transcriptional activit
- **DUX4** — Double homeobox protein 4 [Candidate gene tested in]
  - Função: Transcription factor that is selectively and transiently expressed in cleavage-stage embryos (PubMed:28459457). Binds to double-stranded DNA elements with the consensus sequence 5'-TAATCTAATCA-3' (Pub
- **DUX4L1** [Candidate gene tested in]
- **SMCHD1** — Structural maintenance of chromosomes flexible hinge domain-containing protein 1 [Modifying germline mutation in]
  - Função: Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes hete
- **FRG1** — Protein FRG1 [Candidate gene tested in]
  - Função: Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involve

## Ensaios clínicos ativos (3)

- **NCT06600308** [RECRUITING]: Walking ANalysis Interest in Persons wiTh facioscapulohumEral Muscular Dystrophies — https://clinicaltrials.gov/study/NCT06600308
- **NCT07409142** [RECRUITING]: BetterLife FSHD: A Patient-driven Health and Research Platform — https://clinicaltrials.gov/study/NCT07409142
- **NCT07038200** [RECRUITING]: A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD — https://clinicaltrials.gov/study/NCT07038200
- **NCT06086548** [UNKNOWN]: Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics — https://clinicaltrials.gov/study/NCT06086548
- **NCT05178706** [COMPLETED]: Effectiveness of Upper Extremity Rehabilitation in pwFSHD (Patient With Facioscapulohumeral Dystrophia) — https://clinicaltrials.gov/study/NCT05178706
- **NCT04267354** [COMPLETED]: Arm Cycling in Facioscapulohumeral Dystrophy (FSHD) Patients — https://clinicaltrials.gov/study/NCT04267354
- **NCT01596803** [COMPLETED]: Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD) — https://clinicaltrials.gov/study/NCT01596803
- **NCT02625662** [COMPLETED]: Facioscapulohumeral Dystrophy in Children — https://clinicaltrials.gov/study/NCT02625662
- **NCT02861911** [TERMINATED]: Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial — https://clinicaltrials.gov/study/NCT02861911
- **NCT02208713** [UNKNOWN]: Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) — https://clinicaltrials.gov/study/NCT02208713

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## 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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