# Distrofia muscular, congênita > Página oficial: https://raras.org/doenca/distrofia-muscular-congenita > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 97242 — https://www.orpha.net/en/disease/detail/97242 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica Uma distrofia muscular caracterizada por músculos com tônus reduzido (ficam mais moles), fraqueza muscular progressiva e desgaste dos músculos (atrofia), articulações que ficam presas de forma incomum, rigidez na coluna e atrasos nos marcos motores, como sentar ou ficar em pé sem apoio. ## Epidemiologia e herança - **Prevalência**: 1-9 / 100 000 - **Padrão de herança**: Autosomal dominant, Autosomal recessive ## Sinais e sintomas (533 fenótipos HPO) - **Alimentação por gastrostomia na infância** — HPO: HP:0011471 - **Fraqueza muscular da mão** — HPO: HP:0030237 - **Comprometimento cognitivo** — HPO: HP:0100543 - **Alimentação por sonda** — HPO: HP:0033454 - **Ausência de merosina na fibra muscular** — HPO: HP:0030091 - **Ceratose pilar** — HPO: HP:0032152 - **Hipertrofia mitocondrial** — HPO: HP:0033686 - **Alfa-distroglicano reduzido na fibra muscular** — HPO: HP:0030099 - **Fraqueza fatigável dos músculos proximais dos membros** — HPO: HP:0030200 - **Morfologia anormal do disco Z** — HPO: HP:0020202 - **Defeito do tubo neural** — HPO: HP:0045005 - **Disfunção sistólica do ventrículo esquerdo** — HPO: HP:0025169 - **Habilidade atrasada de sentar** — HPO: HP:0025336 - **Contratura do ombro** — HPO: HP:0034665 - **Atelectasia** — HPO: HP:0100750 - **Anormalidade da condução cardíaca** — HPO: HP:0031546 - **Alimentação por sonda nasogástrica** — HPO: HP:0040288 - **Sobrepeso** — HPO: HP:0025502 - **Marcha na ponta dos pés** — HPO: HP:0030051 - **Heterotopia subcortical** — HPO: HP:0032391 - **Atividade anormal da lactato desidrogenase** — HPO: HP:0045040 - **Hipoplasia da ponte** — HPO: HP:0012110 - **Postura curvada** — HPO: HP:0025403 - **Anormalidade no teste de função pulmonar** — HPO: HP:0030878 - **Habilidade atrasada de ficar em pé** — HPO: HP:0025335 - **Contratura do cotovelo** — HPO: HP:0034391 - **Colágeno VI muscular reduzido** — HPO: HP:0030095 - **Habilidade atrasada de andar** — HPO: HP:0031936 - **Hidromielia** — HPO: HP:0100565 - **Tronco cerebral dobrado** — HPO: HP:0012793 - **Hipoglicosilação da alfa-distroglicana** — HPO: HP:0030046 - **Positividade para anticorpos do receptor de acetilcolina** — HPO: HP:0030208 - **Fraqueza fatigável dos músculos bulbares** — HPO: HP:0030192 - **Crise tônica** — HPO: HP:0032792 - **Aumento do tecido conjuntivo endomisial** — HPO: HP:0100297 - **Atrofia da língua** — HPO: HP:0012473 - **Atrofia da substância branca cerebral** — HPO: HP:0012762 - **Fibras musculares anguladas** — HPO: HP:0034045 - **Nível anormal de aldolase** — HPO: HP:0012400 - **Anormalidade do músculo da língua** — HPO: HP:0040173 - _...e mais 493 sintomas. Ver https://raras.org/doenca/distrofia-muscular-congenita._ ## Genes associados (33) - **TRIP4** — Activating signal cointegrator 1 [Disease-causing germline mutation(s) in] - Função: Transcription coactivator which associates with nuclear receptors, transcriptional coactivators including EP300, CREBBP and NCOA1, and basal transcription factors like TBP and TFIIA to facilitate nucl - **INPP5K** — Inositol polyphosphate 5-phosphatase K [Disease-causing germline mutation(s) in] - Função: Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:107538 - **B4GAT1** — Beta-1,4-glucuronyltransferase 1 [Disease-causing germline mutation(s) in] - Função: Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1) (PubMed:19587235, PubMed:23359570, PubMed:25279697, PubMed:25279699). Transfers a glucuronic acid (GlcA) residue - **SELENON** — Selenoprotein N [Disease-causing germline mutation(s) in] - Função: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP - **B3GALNT2** — UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 [Disease-causing germline mutation(s) in] - Função: Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward - **DPM2** — Dolichol phosphate-mannose biosynthesis regulatory protein [Disease-causing germline mutation(s) in] - Função: Regulates the biosynthesis of dolichol phosphate-mannose (PubMed:10835346). Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable ex - **GMPPB** — Mannose-1-phosphate guanylyltransferase catalytic subunit beta [Disease-causing germline mutation(s) in] - Função: Catalytic subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex (PubMed:33986552). Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoprotei - **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- - **RXYLT1** — Ribitol-5-phosphate xylosyltransferase 1 [Disease-causing germline mutation(s) in] - Função: Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, which catalyzes the transfer of UDP-D-xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O-mannosyl gly - **COL6A3** — Collagen alpha-3(VI) chain [Disease-causing germline mutation(s) in] - Função: Collagen VI acts as a cell-binding protein - **COL6A1** — Collagen alpha-1(VI) chain [Disease-causing germline mutation(s) in] - Função: Collagen VI acts as a cell-binding protein - **POMK** — Protein O-mannose kinase [Disease-causing germline mutation(s) in] - Função: Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1, - **SNUPN** — Snurportin-1 [Disease-causing germline mutation(s) in] - Função: Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs - **DPM3** — Dolichol-phosphate mannosyltransferase subunit 3 [Disease-causing germline mutation(s) in] - Função: Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum - **ITGA7** — Integrin alpha-7 [Disease-causing germline mutation(s) in] - Função: Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and fa ## Ensaios clínicos ativos (10) - **NCT06503367** [RECRUITING]: Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy — https://clinicaltrials.gov/study/NCT06503367 - **NCT05394506** [RECRUITING]: Modifying Factors in Striated Muscle Laminopathies — https://clinicaltrials.gov/study/NCT05394506 - **NCT05102916** [RECRUITING]: Swiss Registry for Neuromuscular Disorders — https://clinicaltrials.gov/study/NCT05102916 - **NCT07125040** [RECRUITING]: Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers — https://clinicaltrials.gov/study/NCT07125040 - **NCT00313677** [RECRUITING]: Clinical Trial Readiness for the Dystroglycanopathies — https://clinicaltrials.gov/study/NCT00313677 - **NCT05982119** [RECRUITING]: Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study — https://clinicaltrials.gov/study/NCT05982119 - **NCT06924125** [RECRUITING]: Spanish Natural History Study for LAMA2 Muscular Dystrophy — https://clinicaltrials.gov/study/NCT06924125 - **NCT06354790** [RECRUITING]: Natural History Study of Children With LAMA2-related Dystrophies — https://clinicaltrials.gov/study/NCT06354790 - **NCT06132750** [RECRUITING]: A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy. — https://clinicaltrials.gov/study/NCT06132750 - **NCT01403402** [RECRUITING]: Congenital Muscle Disease Study of Patient and Family Reported Medical Information — https://clinicaltrials.gov/study/NCT01403402 ## Centros de referência no Brasil (24) - Hospital Universitário Prof. Edgard Santos (HUPES) (Salvador/BA) - Hospital Infantil Albert Sabin (Fortaleza/CE) - Hospital de Apoio de Brasília (HAB) (Brasília/DF) - Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA) (Vila Velha/ES) - Hospital das Clínicas da UFG (Goiânia/GO) - Hospital Universitário da UFJF (Juiz de Fora/MG) - Hospital das Clínicas da UFMG (Belo Horizonte/MG) - Hospital Universitário Julio Müller (HUJM) (Cuiabá/MT) - Hospital Universitário João de Barros Barreto (Belém/PA) - Hospital Universitário Lauro Wanderley (HULW) (João Pessoa/PB) - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) (Recife/PE) - Hospital Pequeno Príncipe (Curitiba/PR) - Hospital Universitário Regional de Maringá (HUM) (Maringá/PR) - Hospital de Clínicas da UFPR (Curitiba/PR) - Hospital Universitário Pedro Ernesto (HUPE-UERJ) (Rio de Janeiro/RJ) - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz) (Rio de Janeiro/RJ) - Hospital São Lucas da PUCRS (Porto Alegre/RS) - Hospital de Clínicas de Porto Alegre (HCPA) (Porto Alegre/RS) - Hospital Universitário da UFSC (HU-UFSC) (Florianópolis/SC) - Hospital das Clínicas da FMUSP (São Paulo/SP) ## Doenças relacionadas (por similaridade fenotípica) - [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 198 sintomas em comum - [Doença músculo-olho-cérebro](https://raras.org/doenca/588) — ORPHA:588 — 154 sintomas em comum - [Miopatia nemalínica](https://raras.org/doenca/miopatia-nemalinica) — ORPHA:607 — 132 sintomas em comum - [Deficiência qualitativa ou quantitativa da tropomiosina](https://raras.org/doenca/deficiencia-qualitativa-ou-quantitativa-da-tropomiosina) — ORPHA:284790 — 128 sintomas em comum - [Distrofia muscular Bethlem](https://raras.org/doenca/distrofia-muscular-bethlem) — ORPHA:610 — 120 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 - [Deficiências qualitativas e quantitativas de nebulina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-nebulina) — ORPHA:209182 — 118 sintomas em comum - [Miopatia centronuclear](https://raras.org/doenca/miopatia-centronuclear) — ORPHA:595 — 106 sintomas em comum - [Atrofia muscular espinhal proximal](https://raras.org/doenca/atrofia-muscular-espinhal-proximal) — ORPHA:70 — 100 sintomas em comum - [Deficiências qualitativas e quantitativas de titina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-titina) — ORPHA:209053 — 98 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. --- **Citação sugerida**: Raras.org — Distrofia muscular, congênita. Disponível em: https://raras.org/doenca/distrofia-muscular-congenita **Formato HTML**: https://raras.org/doenca/distrofia-muscular-congenita **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=97242