Presentation
Severe depression or various neurotic behavioural patterns are the most common presentations. [patient.info]
Cardiac disease may be present in up to 33%. [emedicine.medscape.com]
Before the three cases presented in early 2014, cobalt toxicity has been reported in the literature. [the-rheumatologist.org]
They are less likely to present with lens dislocation. Key learning points Marfan syndrome can present with severe cardiac problems. Marfan syndrome can present in a very similar way to Homocystinuria and Ehler Danlos syndrome. [www2.le.ac.uk]
Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy. [autoinflammatory-search.org]
Respiratoric
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Sputum Production
C Red flags Signs and symptoms : Intermittent cough, sputum production and wheezing, often mistaken for asthma. Shortness of breath. Classical features of COPD. [www2.le.ac.uk]
Ears
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Benign Paroxysmal Positional Vertigo
Paroxysmal Positional Vertigo Benign Prostatic Hyperplasia Bladder Cancer Bone Cancer Brain Tumors Breast Cancer Bronchiectasis Burns Cardiomyopathy Carpal Tunnel Syndrome Cataract Celiac Disease Cervical Cancer Chlamydial Infections Cholelithiasis/Cholecystitis [elsevier.com]
Treatment
Treatment - Krasnow Qazi syndrome Not supplied. Resources - Krasnow Qazi syndrome Not supplied. [checkorphan.org]
Surgery is the main treatment method in the case of VSD. [bookinghealth.com]
Treatment should not be stopped during pregnancy, although conversion to zinc treatment may be advantageous since D-penicillamine is classified as a teratogen. [patient.info]
Treatment uses diet and therapy to optimize bone mass and muscle strength. Orthopedic care is a pillar of treatment for these patients providing fracture care and treatment for scoliosis which is common for OI. [bertsbigadventure.org]
Bisphosphonates are the mainstay of treatment for Paget's disease of bone. [medicinenet.com]
Prognosis
Diagnosis - Krasnow Qazi syndrome These home medical tests may be relevant to Cardiomyopathy cataract hip spine disease: * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis - Krasnow Qazi syndrome Not supplied. [checkorphan.org]
Long-term prognosis tends to depend on the presence and severity of heart defects. [medicalnewstoday.com]
It requires a more aggressive treatment plan and has a worse prognosis if the child relapses. [bertsbigadventure.org]
Prognosis Wilson's disease is a progressive disease and fatal if untreated. [ 13 ] Early treatment gives the best results and so, if there is a family history, screening may allow treatment to start in childhood before the onset of symptoms. [patient.info]
What is the prognosis for Paget's disease? The outlook is generally good, particularly if treatment is given before major changes in the affected bones have occurred. [medicinenet.com]
Etiology
The exact etiology is unknown but there is a higher incidence in people who also have immune abnormalities. Moyamoya has been diagnosed in people ages 6 months to 67 years. [bertsbigadventure.org]
This narrative review will describe the classification of LDS, genetic etiologies, cardinal clinical manifestations, and best-evidence management recommendations for the panoply of serious sequelae associated with this syndrome. [nature.com]
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012 Jan. 71(1):141-5. [Medline]. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M. [emedicine.medscape.com]
Epidemiology
Epidemiology Wilson's disease is inherited as an autosomal recessive trait. [patient.info]
Age-appropriate guidelines for the management of Noonan syndrome are available. 1 Epidemiology Noonan syndrome is characterized by marked variable expressivity, which makes it difficult to identify mildly affected individuals. [aafp.org]
Pathophysiology
Key Features Disorders section covers commonly encountered medical-surgical conditions in a consistent, clinically-relevant format that includes: Definition/Description Pathophysiology Clinical Manifestations Complications Diagnostic Studies Interprofessional [elsevier.com]
However, a study from China examining stent-graft repair of acute type B dissection demonstrated that retrograde dissection was the main complication of stent grafting in individuals with Marfan syndrome. 41 Due to similarities in underlying pathophysiology [nature.com]
Multiple functions are described, but the pathophysiologic basis for LGMD1B is unknown. [emedicine.medscape.com]
Prevention
Causes - Krasnow Qazi syndrome Other Possible Causes of these Symptoms * Cataract * Enlarged heart * Flattened vertebrae * Impaired joint mobility Prevention - Krasnow Qazi syndrome Not supplied. [checkorphan.org]
Prevention and outlook As many cases of Noonan syndrome occur randomly, there is currently no known way to prevent the condition developing. [medicalnewstoday.com]
The proteins make the lens cloudy and prevents light from passing through, which causes vision loss. Younger people get them, but they generally affect most people as they age. [health.clevelandclinic.org]
Zinc prevents the absorption of copper but chelation should continue for two to three weeks after it has been started, as the onset is slow. [patient.info]
Is it possible to prevent Paget's disease? There is no way to prevent Paget's disease of bone. Where can I find more information about Paget's disease? For further information, contact the Paget's Disease Foundation. [medicinenet.com]