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Congenital Neuropathy with Arthrogryposis Multiplex

Congenital Non-Progressive Peripheral Neuropathy with Arthrogryposis Multiplex


Presentation

  • Berciano J, Mateo I, De Pablos C, Polo JM, Combarros O (2002) Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia. J Neurol Sci 194:75–82 PubMed Google Scholar 2.[link.springer.com]
  • The syndrome is present at birth and does not show any significant progression thereafter. Three of the cases have suffered from arthrogryposis multiplex congenita. A secondary myopathy is also present.[jnnp.bmj.com]
  • His research focuses on understanding the variation in the clinical presentations of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) and finding biomarkers for them.[books.google.com]
  • […] through HPO Areflexia of lower limbs 0002522 Arthrogryposis multiplex congenita 0002804 Autosomal dominant inheritance 0000006 Babinski sign 0003487 Broad-based gait Wide based walk 0002136 Calcaneovalgus deformity 0001848 Congenital onset Symptoms present[rarediseases.info.nih.gov]
Lordosis
  • The lumbar lordosis increases with age as well; in adolescence, lumbar lordosis and popliteal and cubital webs increase in size.[slideshare.net]
  • Skeletally mature child : If the child is able to ambulate with compensatory lordosis, it is best to wait until skeletal maturity and then hope for lasting correction with subtrochanteric osteotomy.[orthopaedicsone.com]
Hip Pain
  • Utilize the very latest approaches in hip surgery including hip resurfacing, hip preservation surgery, and treatment of hip pain in the young adult; and get the latest information on metal-on-metal hips so you can better manage patients with these devices[books.google.de]
Hyporeflexia
  • Symptoms via clinical synopsis from OMIM: 57 Muscle Soft Tissue: distal muscle weakness distal muscle atrophy proximal muscle weakness, less severe muscle biopsy shows myopathic changes denervation more Neurologic Peripheral Nervous System: hyporeflexia[malacards.org]
  • Symptoms present at birth 0003577 Congenital peripheral neuropathy 0006903 Delayed ability to walk 0031936 Distal amyotrophy Distal muscle wasting 0003693 Distal muscle weakness Weakness of outermost muscles 0002460 Hyperlordosis Prominent swayback 0003307 Hyporeflexia[rarediseases.info.nih.gov]
  • Dystrophy (OPMD) AIDP and Variants CN dysfunction due to CNS disorders Thyroid ophthalmopathy Key Differentiating Features Seronegative; onset in infancy or childhood; skeletal abnormalities (scoliosis); family history; no response to immunotherapies Hyporeflexia[healthdocbox.com]
  • LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. In the early stage of the disease, the clinical aspects of ALS can vary.[aetna.com]
Babinski Sign
  • Showing of 16 Percent of people who have these symptoms is not available through HPO Areflexia of lower limbs 0002522 Arthrogryposis multiplex congenita 0002804 Autosomal dominant inheritance 0000006 Babinski sign 0003487 Broad-based gait Wide based walk[rarediseases.info.nih.gov]
Babinski Sign
  • Showing of 16 Percent of people who have these symptoms is not available through HPO Areflexia of lower limbs 0002522 Arthrogryposis multiplex congenita 0002804 Autosomal dominant inheritance 0000006 Babinski sign 0003487 Broad-based gait Wide based walk[rarediseases.info.nih.gov]
Broad-Based Gait
  • Showing of 16 Percent of people who have these symptoms is not available through HPO Areflexia of lower limbs 0002522 Arthrogryposis multiplex congenita 0002804 Autosomal dominant inheritance 0000006 Babinski sign 0003487 Broad-based gait Wide based walk[rarediseases.info.nih.gov]
Rabies
  • PMID: 24704792 Rabie M, Jossiphov J, Nevo Y J Child Neurol 2007 Jul;22(7):803-8. doi: 10.1177/0883073807304204.[ncbi.nlm.nih.gov]

Workup

  • Pathological findings The nerve and muscle specimens from the lower extremity were received and processed per standard muscle and nerve workup protocols including enzyme histochemistry, special stains for nerve and muscle, nerve teasing, and electron[medcraveonline.com]
  • Preoperative workup was conducted and was significant for hypertension and nonspecific T-wave abnormalities on electrocardiography.[thieme-connect.com]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]

Prognosis

  • PMID: 26777981 Prognosis Vill K, Kuhn M, Gläser D, Walter MC, Müller-Felber W Neuropediatrics 2015 Aug;46(4):282-6. Epub 2015 Jun 25 doi: 10.1055/s-0035-1554100.[ncbi.nlm.nih.gov]
  • The etiologies are multiple and can be maternal or fetal, neurogenic or myogenic and the prognosis depends essentially on the etiology [ 4 - 6 ].[omicsonline.org]
  • The prognosis is highly variable and is dependent on associated anomalies and severity.[radiopaedia.org]
  • Prognosis Ventilator dependence in the neonatal period is associated with a poor prognosis. Prognosis also depends on natural history and the patient’s response to therapy.[boneandspine.com]
  • Prognosis Prognosis depends on the underlying cause but most have a normal lifespan. If, however, there is a central nervous system problem in addition, about half of patients die in the first year.[patient.info]

Etiology

  • Etiology Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP,[ncbi.nlm.nih.gov]
  • The etiologies are multiple and can be maternal or fetal, neurogenic or myogenic and the prognosis depends essentially on the etiology [ 4 - 6 ].[omicsonline.org]
  • Diagnostic étiopathogénique des séquences d'akinésie fœtale, Journal de Pédiatrie et de Puériculture , 2003 , 16 , 3, 171 CrossRef 17 Niklas Darin , Eva Kimber , Anna-Karin Kroksmark , Már Tulinius , Multiple congenital contractures: Birth prevalence, etiology[onlinelibrary.wiley.com]
  • Etiology and Epidemiology The clinical findings of arthrogryposis are due to fetal akinesia.[posna.org]
  • […] ar·thro·gry·po·sis mul·'ti·plex con·gen·'i·ta [MIM*108110] limitation of range of joint motion and contractures present at birth, usually involving multiple joints; a syndrome probably of diverse etiology that may result from changes in spinal cord, muscle[medical-dictionary.thefreedictionary.com]

Epidemiology

  • Etiology and Epidemiology The clinical findings of arthrogryposis are due to fetal akinesia.[posna.org]
  • Epidemiology It may occur to some extent in 1 in 3,000 to 1 in 5,000 live births. [ 3 ] The condition is usually detected at birth or before by ultrasound examination. It is often secondary to other conditions.[patient.info]
  • Epidemiology including risk factors and primary prevention Arthrogryposis occurs from 1/3000 to 1/5000 live births. 2,3 Males and females are equally affected.[now.aapmr.org]
  • Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Am J Hum Genet. 1997;61:660-667. Gonnaud PM, Sturtz F, Bonnebouche C, et al.[aetna.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology of Arthrogryposis Decreased fetal movements or fetal akinesis has been suggested to be the major contributory cause. The decrease in activity could be due to fetal abnormalities or maternal disorders like.[boneandspine.com]
  • Patho-anatomy/physiology The pathophysiology is related to the specific type of arthrogryposis. Exact mechanisms are not well understood in some subtypes of arthrogryposis.[now.aapmr.org]
  • Understanding the pathophysiology of this disorder is important for clinical care of the affected individuals and genetic counseling of the families.[worldwidescience.org]
  • Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA.[aetna.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]
  • However some reason prevents the fetus movement leading to contracture of joints and muscles.[diseasespictures.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]
  • Epidemiology including risk factors and primary prevention Arthrogryposis occurs from 1/3000 to 1/5000 live births. 2,3 Males and females are equally affected.[now.aapmr.org]
  • Flatfoot may exist as an isolated pathology or as part of a larger clinical en... more Background: The surgical treatment of calcaneal deformity in patients with myelomeningocele has not been uniformly successful in correcting the deformity and preventing[scinapse.io]

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