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Neurogenic Arthrogryposis Multiplex Congenita


Presentation

  • For didactic purposes, we present a brief review and correlation of clinical and imaging findings.[archive.rsna.org]
  • The Fourth Edition of this best-selling book is packed full of information to help the reader move from a presenting problem to an accurate diagnosis.[books.google.com]
  • Abstract A clinical and magnetic resonance imaging (MRI) study on a selected group of 11 children, with a diagnosis of neurogenic arthrogryposis multiplex congenita (AMC) based on clinical, electromyographic, and muscle biopsy findings, is presented to[ncbi.nlm.nih.gov]
  • C.) is a syndrome, clinically characterized by persistent joint contractures present at birth. The process may involve one or all extremities, but to varying degrees, so there may be hypotonia even when contractures are present.[jstage.jst.go.jp]
Photophobia
Arthralgia
  • […] limbs Abnormality of cardiovascular system morphology Micromelia Facial asymmetry Round face Oligohydramnios Hemiplegia/hemiparesis Abnormality of the hip bone Aplasia/Hypoplasia of the radius Maternal diabetes Abnormality of the lower limb Fatigue Arthralgia[mendelian.co]
Brachydactyly
  • It started to develop, albeit slowly, during the first half of the 20th century, mendelian inheritance was studied in a number of important disorders such as albinism, brachydactyly, and hemophilia.[wikivisually.com]
Bladder Distention
  • In imaging, several changes were observed in theupper and lower urinary tracts, such as bladder wallhypertrophy and bladder distention.[docslide.net]
Phenylketonuria
  • Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, cytogenetics is the study of chromosomes and chromosome abnormalities.[wikivisually.com]

Treatment

  • Treatment - Arthrogryposis multiplex congenita neurogenic type Treatment of arthrogryposis (joint contracture) involves occupational and physical therapy, well-fitted orthoses (splints and braces), and corrective surgery (if indicated).[checkorphan.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Renal function was evaluated throughboth urea and creatinine tests, and was found to be alteredin 4 patients (15%).With regard to their treatment, 11 patients (42%)received conservative treatment, such as scheduled urina-tion.[docslide.net]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • In a child with normal intelligence, with appropriate treatment, independent ambulation and function can be expected.[orthoseek.com]

Prognosis

  • Prognosis - Arthrogryposis multiplex congenita neurogenic type Long term outlook is good for most people with AMCN, however symptoms can vary greatly.[checkorphan.org]
  • Our study suggests that neurogenic arthrogryposis is usually a non-progressive disorder and in the absence of concomitant brain abnormalities, allows the clinician to offer an optimistic prognosis to the family.[plu.mx]
  • What is the prognosis? In a child with normal intelligence, with appropriate treatment, independent ambulation and function can be expected.[orthoseek.com]
  • Prognosis Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay. Last updated: 6/5/2010[rarediseases.info.nih.gov]

Etiology

  • Etiology The Pena-Shokeir syndrome is not a unitary entity but is etiologically heterogeneous. Maternal myasthenia gravis has been diagnosed in some cases, and experiments in animal models show that curarization of the mother induces fetal akinesia.[orpha.net]
  • It is the purpose of this review to summarize and update what is known about the etiology, diagnosis, natural history, and orthopaedic management of children with these diagnoses.[doi.org]
  • Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG.[emedicine.com]

Epidemiology

  • Summary Epidemiology The syndrome is rare: about 100 cases have been described in the literature. About 30% are stillborn, and the majority of those live-born die of the complications of pulmonary hypoplasia.[orpha.net]
  • Epidemiology The prevalence is unknown but less than 100 patients have been reported in the literature so far.[rarediseases.info.nih.gov]
  • Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Am J Med Genet A. 2006 Sep 1. 140A(17):1834-9. [Medline]. Lin IW, Chueh HY, Chang SD, Cheng PJ.[emedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • This case report as to its etidogy, clinical, pathophysiological, diagnostic, therapeutic, as well as prognostication purposes.[herdin.ph]
  • […] congenital disorder involving multiple rigid joints (usually symmetric) leading to severe limitation in motion Epidemiology incidence 1:3000 live births Mechanism symmetry of contractures due to immobilization in utero neurogenic (90%) myopathic (10%) Pathophysiology[orthobullets.com]
  • […] characterized by multiple joint contractures found throughout the body at birth. [1] The designation is currently used in connection with a very heterogeneous series of disorders that all include the common feature of multiple congenital joint contractures. [2] Pathophysiology[emedicine.com]

Prevention

  • Symptoms - Arthrogryposis multiplex congenita neurogenic type Causes - Arthrogryposis multiplex congenita neurogenic type Prevention - Arthrogryposis multiplex congenita neurogenic type Not supplied.[checkorphan.org]
  • Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice.[books.google.com]
  • Prevention Genetic advice may be essential to prevent arthrogryposis. Extrinsically derived contractures have a low recurrence risk but the recurrence risk for intrinsically derived contractures depends on the aetiology.[patient.info]
  • Carriers of the AM mutation in registered Angus herds should not be used for breeding unless all of the progeny are to be slaughtered or the progeny will be tested to prevent carrier progeny from moving into the commercial cattle population.[vetbook.org]

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