What is Morquio Syndrome?
Morquio syndrome ( MPS IV ) is a metabolous disorder and a character of mucopolysaccharidosis and is an inherited autosomal recessive mucopolysaccharide storage disease . This is a type of nascence flaw , which is very uncommon . In this experimental condition , the trunk is not able to synthesise some type of mucopolysaccharides , which do them to be eliminate or accumulate in the parentage , bone bone marrow , cardiac system , respiratory system and other organs in the body result in progressive damage to the tissues , cells and variety meat make various type of symptom . patient role suffering from Morquio syndrome have typical wasted deformities during childhood and brook from short spine dwarfism . Morquio syndrome is characterise by excretion of abnormal quantities of keratin sulfate through micturition and percolation of keratin sulfate to the tissues . Morquio Syndrome is also live by other names , such as MPS IV , Beta galactosidase lack , Galactosamine-6 - sulfatase want , Mucopolysaccharidosis type IVA and Mucopolysaccharidosis eccentric IVB .
Types of Morquio Syndrome
Morquio Syndrome Type A : This is the more coarse type of Morquio syndrome and it does not have sufficient N - acetylgalactosamine-6 - sulphate sulfatase .
Morquio Syndrome Type B : This is the milder form of Morquio syndrome and exhibits lesser symptom . In this type , there is insufficient production of beta - galactosidase .
Causes of Morquio Syndrome
Morquio syndrome is a condition , which is autosomal recessionary trait . If both the parent have the incorrect factor , which is assort with Morquio Syndrome , then their single children will have about a 25 % chance of having this syndrome .
As name before there are 2 types of Morquio Syndrome : Type A , which does not produce sufficient enzyme galactosamine-6 - sulfatase ; and Type B , which does not raise sufficient enzyme beta - galactosidase .
Both these enzymes are important for the body to break down keratin sulfate sugar chain , which is a recollective strand of sugar molecules . In both Type A & B of Morquio syndrome , there is accumulation of extraordinary prominent amount of glycosaminoglycans in the physical structure , which causes price to the organs . Morquio syndrome is estimated to move 1 in every 200,000 babies . kid usually start experiencing symptom between the ages of 1 and 3 . Having a family chronicle of Morquio syndrome increases the risk for having this condition .
Signs & Symptoms of Morquio Syndrome
Morquio Syndrome is not obvious until the child take off walking and collapse below are some of the crucial characteristics or signs of this condition :
Treatment of Morquio Syndrome
Symptomatic treatment is done for Morquio syndrome , as there is no particular handling for this disease . Research is exit on for a treatment which involves enzyme replacement therapy . As this is a hereditary circumstance , hereditary counseling is recommended for parents with family chronicle of Morquio syndrome . Osteotomy can be done to improve the gait of the patient role by correcting the leg alignment . Spinal coalition is done to preclude lasting trauma to the spinal cord and to prevent further deformity to the spine in patients with underdeveloped neck opening osseous tissue . It is important to see how to properly put and manage the kid for improved breathing , preventing contractures and preventing subluxation . Magnetic Resonance Imaging ( MRI ) scan helps in check the stability of the cervix .
Facts about Morquio Syndrome
Fact-1 : Morquio Syndrome is a rare genetic condition .
Fact-2 : Both male person and females are every bit affected by Morquio Syndrome .
Fact-3 : have a family unit chronicle of Morquio Syndrome increase the peril of induce this condition .
Fact-4 : It is gauge that about 1 in 200,000 births will have Morquio Syndrome .
Fact-5 : The moved child will appear normal at nativity ; however , as he / she grows , gaunt deformities will become observable .
Fact-6 : Atlantoaxial unstableness is the primary worry , which lead to damage to the spinal cord resulting in paralysis or motor and sensorial impairment .
Fact-7 : Patients with Morquio Syndrome will have normal genial developing or very mild mental impairment .
Fact-8 : Various research laboratory and diagnostic investigating are done during the first year of the child ’s life , as that is the fourth dimension when the symptoms become obvious .
Fact-9 : The master research lab investigation , which is done , is urine trial which will aid in determining the presence of mucopolysaccharide , however , will not decidedly determine the exact material body of this condition .
Fact-10 :X - ray of the long bone and spine , genetic examination , and ECG and ultrasound help in name Morquio Syndrome .
Fact-11 : Other problem , such as cardiorespiratory ramification , centre mussitation and fuss with breathing interferes with the youngster ’s power to do his / her activities .
Fact-12 : It is crucial to get genetic guidance for parent who have a family history of Morquio syndrome and for parents who have a youngster with Morquio syndrome .
counselling helps in the understanding of this disease and the possible treatment . Prenatal examination can also be done .
Life Expectancy & Prognosis of Patients with Morquio Syndrome
The life anticipation and prognosis of patients suffer from Morquio Syndrome is not good . decease finally happen for the affected role due to condensation of the spinal cord and cardiorespiratory failure . The life expectancy of patients with Morquio Syndrome is around approximately 30 years with some patients dying as early as 2 to 3 years of geezerhood . Some patients can also know up to 60 year with good care . It is authoritative that this consideration is detected early , as early detection and straightaway treatment / intervention help oneself in bettering the patient ’s quality of life and increasing the aliveness expectancy of the patient .
