A miastenia gravis neonatal transitória (MG) é uma forma rara de MG que ocorre em neonatos nascidos de mães que apresentam o distúrbio ou autoanticorpos circulantes específicos.
Introdução
O que você precisa saber de cara
A miastenia gravis neonatal transitória (MG) é uma forma rara de MG que ocorre em neonatos nascidos de mães que apresentam o distúrbio ou autoanticorpos circulantes específicos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
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Outros ensaios clínicos
Publicações mais relevantes
[Myasthenia gravis-Gender aspects and family planning].
There is evidence that gender-specific differences can influence the diagnostics, treatment and long-term disease course of myasthenia gravis (MG). In women the diagnosis is often made during childbearing age. Gender-specific differences in MG and relevant aspects in routine clinical practice are presented. In addition, current studies on family planning, pregnancy and childbirth in MG are highlighted and treatment recommendations are derived. Narrative literature review. In addition to sociodemographic data, gender-specific differences encompass clinical as well as paraclinical factors, such as disease severity and antibody status. With few exceptions pregnancy is possible with good maternal and neonatal outcome. During pregnancy and peripartum, children of MG patients should be closely monitored for early detection and treatment of potential syndromes caused by diaplacental transfer of maternal antibodies. Gender-specific factors can influence the course of MG. Adequate medical counselling and multidisciplinary collaboration are essential for MG patients who wish to have children. HINTERGRUND: Bei der Myasthenia gravis (MG) gibt es Hinweise, dass geschlechtsspezifische Unterschiede Diagnostik, Therapie und den langfristigen Erkrankungsverlauf beeinflussen können. Bei Frauen erfolgt die Diagnosestellung häufig im gebärfähigen Alter. Geschlechtsspezifische Unterschiede bei MG und relevante Aspekte im klinischen Alltag werden dargestellt. Es werden aktuelle Studien zu Kinderwunsch, Schwangerschaft und Geburt bei MG beleuchtet und Therapieempfehlungen abgeleitet. Narrativer Literaturreview. Geschlechtsspezifische Unterschiede finden sich neben soziodemographischen Daten auch für klinische und paraklinische Faktoren wie Krankheitsschwere und Antikörperstatus. Mit wenigen Ausnahmen ist eine Schwangerschaft mit gutem maternalem und neonatalem Outcome möglich. Während der Schwangerschaft sowie peripartal sollten Kinder von MG-Patientinnen engmaschig monitoriert werden, um potenzielle Erkrankungen, die durch einen diaplazentaren Übertritt maternaler Antikörper hervorgerufen werden, frühzeitig zu erkennen und therapieren. Geschlechtsspezifische Faktoren können den Erkrankungsverlauf der MG beeinflussen. Die adäquate ärztliche Beratung und multidisziplinäre Zusammenarbeit ist essenziell für MG-Patientinnen mit Kinderwunsch.
Pregnancy in myasthenia gravis: a retrospective analysis of maternal and neonatal outcome from a large tertiary care centre in Germany.
Myasthenia gravis (MG) is a rare, potentially life-threatening autoimmune disease with fluctuating muscle weakness frequently affecting women of childbearing age. MG can affect maternal as well as neonatal outcome with risk of worsening of myasthenic symptoms in the mothers and risk of transient neonatal myasthenia gravis (TNMG) and arthrogryposis multiplex congenita (AMC) or foetal acetylcholine receptor antibody-associated disorders (FARAD) in the neonates. Retrospective analysis of maternal and neonatal outcome in a cohort of pregnant MG patients treated at a tertiary care centre in Germany. Overall, 66 pregnancies were analysed. During 40 (63%) pregnancies, women experienced a worsening of myasthenic symptoms, of whom 10 patients (15.7%) needed acute therapy with IVIg or plasma exchange. There was no case of myasthenic crisis. Rate of caesarean section was comparable to the overall C-section rate at our centre (38% vs. 40%). However, there was a slightly higher rate for operative vaginal delivery (15% vs. 10%) as potential indicator for fatiguing striated musculature in MG patients during the expulsion stage. Rate of TNMG as well as AMC was 3% (two cases each). Maternal and neonatal outcome in our cohort was favourable with a low rate of myasthenic exacerbations requiring acute therapies and a low rate of TNMG and AMC/FARAD. Our data might help neurologists and obstetricians to advice MG patients with desire to have children.
Transient Neonatal Myasthenia Gravis Born to a Mother with Asymptomatic MG: A Case Report.
Myasthenia gravis (MG) is an autoimmune disease which can impact pregnancy. We describe a transient neonatal myasthenia gravis (TNMG) born to an asymptomatic mother aged 26. The newborn presented cyanosis and generalized muscular weakness quickly after birth. Nasal continuous positive airway pressure (nCPAP) ventilation was performed immediately. On day 3, detailed family history showed that the neonate's 50-year-old maternal grandmother was diagnosed as ocular MG at the age of 40. Ryanodine receptor calcium release channel antibody (RyR-Ab) and acetylcholine receptor antibody (AChR-Ab) tested on day 5 were positive. However, neostigmine tests were negative for the neonate. Intravenous immunoglobulin (IVIG) and oral pyridostigmine were administered. The infant was weaned from the ventilator on day 7. On day 10, the neonate's asymptomatic mother was confirmed to have positive AChR-Ab either. The neonate regained the capability of bottle feeding on day 17 and discharged on day 26. Asymptomatic pregnant women with MG family history can also deliver infants who develop TNMG. Testing AChR antibodies in pregnant women with a family history of MG should be necessary as TNMG was a life-threatening disease. With timely diagnosis and accurate treatment, TNMG can be effectively relieved.
Transient Neonatal Myasthenia Gravis as a Common Complication of a Rare Disease: A Systematic Review.
Myasthenia gravis (MG) is a rare autoimmune disease. Transient neonatal myasthenia gravis (TNMG) is caused by pathogenic maternal autoantibodies that cross the placenta and disrupt signaling at the neuromuscular junction. This is a systematic review of this transient immunoglobulin G (IgG)-mediated disease. TNMG affects 10-20% of children born to mothers with MG. The severity of symptoms ranges from minor feeding difficulties to life-threatening respiratory weakness. Minor symptoms might go unnoticed but can still interfere with breastfeeding. Acetylcholine-esterase inhibitors and antibody-clearing therapies such as immunoglobulins can be used to treat TNMG, but most children do well with observation only. TNMG is self-limiting within weeks as circulating antibodies are naturally cleared from the blood. In rare cases, TNMG is associated with permanent skeletal malformations or permanent myopathy. The mother's antibodies can also lead to spontaneous abortions. All healthcare professionals meeting pregnant or birthing women with MG or their neonates should be aware of TNMG. TNMG is hard to predict. Reoccurrence is common among siblings. Pre-pregnancy thymectomy and intravenous immunoglobulins during pregnancy reduce the risk. Neonatal fragment crystallizable receptor (FcRn) blocking drugs for MG might reduce TNMG risk.
Challenges in Diagnosing and Treating Myasthenia Gravis in Infants and Children with Presentation of Cases.
Myasthenia gravis (MG) is a rare condition that impairs function at the neuromuscular junction of skeletal muscles, seen less commonly in children. Causes include autoimmune MG, congenital myasthenic syndromes, and transient neonatal myasthenia gravis. Symptoms of weakness, hypotonia, and fatigability can be reasonably explained by more common causes, thus children with MG disorders commonly experience delays in treatment with severe consequences. This leads to the progression of disease and serious complications including myasthenic crises and exacerbations. We describe 5 cases of MG, which illustrate clinical and genetic challenges in establishing diagnosis and subsequent consequences of delayed diagnosis.
Publicações recentes
Myasthenia Gravis in Pregnancy: Prenatal and Postnatal Diagnostic Challenges-A Narrative Review.
[Myasthenia gravis-Gender aspects and family planning].
Pregnancy in myasthenia gravis: a retrospective analysis of maternal and neonatal outcome from a large tertiary care centre in Germany.
Transient Neonatal Myasthenia Gravis Born to a Mother with Asymptomatic MG: A Case Report.
Transient Neonatal Myasthenia Gravis as a Common Complication of a Rare Disease: A Systematic Review.
📚 EuropePMC23 artigos no totalmostrando 21
[Myasthenia gravis-Gender aspects and family planning].
Der NervenarztPregnancy in myasthenia gravis: a retrospective analysis of maternal and neonatal outcome from a large tertiary care centre in Germany.
Archives of gynecology and obstetricsTransient Neonatal Myasthenia Gravis Born to a Mother with Asymptomatic MG: A Case Report.
Degenerative neurological and neuromuscular diseaseTransient Neonatal Myasthenia Gravis as a Common Complication of a Rare Disease: A Systematic Review.
Journal of clinical medicineTransient Neonatal Myasthenia Gravis: A Case Report.
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)Challenges in Diagnosing and Treating Myasthenia Gravis in Infants and Children with Presentation of Cases.
Advances in pediatricsThe emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Brain : a journal of neurologyThe expectant management of a rare neonatal disease: transient neonatal myasthenia gravis.
The Turkish journal of pediatricsNew diagnosis of myasthenia gravis in the third trimester - A case report.
Case reports in women's healthMyasthenia gravis in pregnancy: Systematic review and case series.
Obstetric medicineFetal Surveillance in Pregnancies with Myasthenia Gravis.
Medicina (Kaunas, Lithuania)Transient neonatal myasthenia gravis: refining risk estimate for infants born to women with myasthenia gravis.
Journal of perinatology : official journal of the California Perinatal AssociationMyasthenia Gravis with Anti-Muscle-Specific Tyrosine Kinase Antibody during Pregnancy and Risk of Neonatal Myasthenia Gravis: A Case Report and Review of the Literature.
Case reports in neurologyNeuromuscular Junction Disorders and Floppy Infant Syndrome: A Comprehensive Review.
CureusIntravenous immunoglobulin as monotherapy for myasthenia gravis during pregnancy.
Journal of the neurological sciencesTransient neonatal myasthenia gravis with infantile hypertrophic pyloric stenosis: coincidence or causation?
Tropical doctorThe Role of Sugammadex in Symptomatic Transient Neonatal Myasthenia Gravis: A Case Report.
A & A case reportsTransient neonatal myasthenia gravis due to a mother with ocular onset of anti-muscle specific kinase myasthenia gravis.
Neuromuscular disorders : NMDClinical follow-up of pregnancy in myasthenia gravis patients.
Neuromuscular disorders : NMDSeronegative Maternal Ocular Myasthenia Gravis and Delayed Transient Neonatal Myasthenia Gravis.
AJP reportsFetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.
Neurology(R) neuroimmunology & neuroinflammationAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- [Myasthenia gravis-Gender aspects and family planning].
- Pregnancy in myasthenia gravis: a retrospective analysis of maternal and neonatal outcome from a large tertiary care centre in Germany.
- Transient Neonatal Myasthenia Gravis Born to a Mother with Asymptomatic MG: A Case Report.
- Transient Neonatal Myasthenia Gravis as a Common Complication of a Rare Disease: A Systematic Review.
- Challenges in Diagnosing and Treating Myasthenia Gravis in Infants and Children with Presentation of Cases.
- Myasthenia Gravis in Pregnancy: Prenatal and Postnatal Diagnostic Challenges-A Narrative Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:391504(Orphanet)
- MONDO:0018326(MONDO)
- Miastenia Gravis(PCDT · Ministério da Saúde)
- GARD:21625(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q18554667(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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