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]
We presented the same seven community walkers of 11 patients with a similar management. Feet. [doi.org]
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]
Hematological
- Hemophilia A
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]
Gastrointestinal
- Gagging
Gag reflex was absent, there was bilateral asymmetric facial nerve palsy, areflexia, hypotonia and reduced muscle bulk with preservation of the thenar and hypothenar eminences. Power in the upper limbs was restricted to movements of the digits. [indianpediatrics.net]
[…] cerebrospinal fluid (CSF) outflow The cerebrospinal fluid outflow is caused by phase difference in outflow and influx of blood in the vasculature of the brain It can cause headaches, fatigue, muscle weakness, difficulty swallowing (sometimes accompanied by gagging [pediascape.org]
In the most common variant of sickle-cell disease, the 20th nucleotide of the gene for the chain of hemoglobin is altered from the codon GAG to GTG. [wikivisually.com]
- Nausea
[…] cerebrospinal fluid outflow is caused by phase difference in outflow and influx of blood in the vasculature of the brain It can cause headaches, fatigue, muscle weakness, difficulty swallowing (sometimes accompanied by gagging), choking and vomiting, dizziness, nausea [pediascape.org]
Musculoskeletal
- 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]
Neurologic
- Irritability
This causes irritation to the existing injury. Some treatments for tennis elbow include physical therapy, anti-inflammatory medication, an ECU injury most often requires imaging for diagnosis. [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]
He recommended treatment by bracing if the curve is less than 30° at the beginning of treatment and if the patient is an ambulator. [doi.org]
In a child with normal intelligence, with appropriate treatment, independent ambulation and function can be expected. [orthoseek.com]
The treatment of arthrogryposis includes occupational therapy, physical therapy, splinting and surgery. [en.wikipedia.org]
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]
Prognosis
The prognosis is highly variable and is dependent on associated anomalies and severity. [radiopaedia.org]
Prognosis depends on the specific etiology of the contractures The incidence of abnormal joint contractures and other accompanying malformations in eight patients observed with three-dimensional ultrasonography are described [elsevier.es]
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]
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]
Abstract Arthrogryposis, or multiple congenital contractures, is the occurrence of joint contractures of diverse etiology in the prenatal period. [elsevier.es]
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]
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
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]
Symptoms - Arthrogryposis multiplex congenita neurogenic type Causes - Arthrogryposis multiplex congenita neurogenic type Prevention - Arthrogryposis multiplex congenita neurogenic type Not supplied. [checkorphan.org]
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]
Orofacial/odontological treatment It is important that individuals with this diagnosis receive dental preventive treatment, with extra prophylactic care and information on oral hygiene from an early age. [mun-h-center.se]