Hunter Syndrome : Causes-Symptoms-Diagnosis-Treatment


 What Is Hunter Syndrome(HS)?

Mucopolysaccharidosis kind II (MPS II), additionally referred to as Hunter syndrome, is a circumstance that impacts many exceptional parts of the body and takes place almost solely in males. It is a progressively debilitating ailment; but, the rate of progression varies among affected individuals.

At the beginning, individuals with MPS II did not display any capabilities of the circumstance. Between a long time 2 and four, they expand complete lips, massive rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also extend, which ends up in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and brief pauses in breathing all through sleep (sleep apnea). As the disease progresses, people need scientific help to keep their airway open.

What Is Hunter Syndrome(HS)?
Hunter Syndrome

Many different organs and tissues are affected in MPS II. Individuals with this sickness regularly have a big head (macrocephaly), a buildup of fluid within the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a tender out-pouching across the belly-button (umbilical hernia) or decrease abdomen (inguinal hernia). People with MPS II typically have thick pores and skin that is not very stretchy. Some affected individuals also have different white pores and skin growths that appear to be pebbles. Most human beings with this disorder expand listening to loss and feature recurrent ear infections. Some individuals with MPS II broaden issues with the light-sensitive tissue in the return of the eye (retina) and have decreased vision. Carpal tunnel syndrome typically occurs in children with this sickness and is characterized via numbness, tingling, and weakness in the hand and arms. Narrowing of the spinal canal (spinal stenosis) within the neck can compress and damage the spinal cord. The coronary heart is likewise extensively laid low with MPS II, and many people develop coronary heart valve issues. Heart valve abnormalities can cause the coronary heart to turn out to be enlarged (ventricular hypertrophy) and may finally result in coronary heart failure.

Children with MPS II grow steadily until about age five, and then their increase slows and they increase quick stature. Individuals with this situation have joint deformities (contractures) that extensively affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to more than one skeletal abnormality visible on x-ray. Dysostosis multiplex includes a generalized thickening of most long bones, specially the ribs.

There are two kinds of MPS II, known as the severe and mild kinds. While both sorts affect many exclusive organs and tissues as defined above, humans with extreme MPS II also enjoy a decline in highbrow function and a more rapid disease progression. Individuals with the intense form start to lose fundamental functional abilities (developmentally regress) among the ages of 6 and eight. The life expectancy of these individuals is 10 to twenty years. Individuals with mild MPS II also have a shortened lifespan, but they normally stay into maturity and their intelligence is not affected. Heart sickness and airway obstruction are major reasons of dying in humans with both styles of MPS II.

Hunter syndrome, additionally referred to as mucopolysaccharidosis II or MPS II, is an unprecedented sickness that is exceeded in households. It mainly influences boys. Their bodies can't wreck down a type of sugar that builds bones, pores and skin, tendons, and other tissue. Those sugars build up in their cells and damage many elements of the frame, together with the brain. Exactly what takes place is unique for everyone.

When your son has Hunter syndrome, there are matters you could do to help them play, have friends, and do some of the things that other kids do, even though they'll appear unique from their pals.

Although there's no cure for Hunter syndrome, there are methods to assist manipulate it and stay with the symptoms.

Medical terms

  • Hunter syndrome is a completely rare, inherited genetic disease resulting from a lacking or malfunctioning enzyme. In Hunter syndrome, the body does not have sufficient of the enzyme iduronate 2-sulfatase. This enzyme's task is to break down complicated molecules, and without enough of this enzyme, the molecules build up in harmful quantities.
  • The buildup of big quantities of those harmful materials finally causes everlasting, modern damage affecting appearance, mental improvement, organ function and physical talents.
  • Hunter syndrome is far extra common in boys. The circumstance is one sort of a group of inherited metabolic issues known as mucopolysaccharidoses (MPSs). Hunter syndrome is likewise referred to as MPS II.
  • There's no remedy for Hunter syndrome. Treatment entails dealing with symptoms and complications.
  • Hunter syndrome is a genetically related lysosomal garage ailment because of the deficiency of the iduronate 2-sulfatase enzyme (IDS). It is an X-related recessive disease and happens predominantly in men. Iduronate 2-sulfatase (IDS) is chargeable for the breakdown of massive sugar molecules referred to as glycosaminoglycans. Decreased activity of IDS results in intracellular and extracellular accumulation of heparan sulfate (HS) and dermatan sulfate (DS) in multiple organs of the body. Hunter syndrome provides for the duration of adolescence.

Information Hunter syndrome is an inherited genetic disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase Symptoms include failure to thrive developmental delay recurrent respiratory infections and abnormal accumulation of glycosaminoglycans (GAG) in cells of various organs.

Hunter syndrome is a genetic disorder that disrupts the production of an enzyme called iduronate-2-sulfatase This enzyme plays an important role in healthy immune system function and without it Hunter syndrome can cause devastating health problems Some of these problems include enlarged livers and spleens hardened skin and blindness In many cases children born with Hunter syndrome will die before their first birthday.

Symptoms Hunter syndrome(HS)

Newborns with Hunter syndrome generally no longer have any signs or signs and symptoms at delivery. As youngsters grow and develop, signs and symptoms of disease may additionally turn out to be greater apparent.

Symptoms fall on a spectrum. Some youngsters have only mild signs. Other kids enjoy sizable complications of the disease.

Hunter syndrome signs vary and range from moderate to intense. Symptoms aren't present at start, however frequently start round a long time 2 to four as the dangerous molecules build up.

Signs and signs can also encompass:

  • An enlarged head

  • Thickening of the lips

  • A broad nose and flared nostrils

  • A protruding tongue

  • A deep, hoarse voice

  • Abnormal bone size or shape and other skeletal irregularities

  • A distended abdomen, as a result of enlarged internal organs

  • Chronic diarrhea

  • White skin growths that resemble pebbles

  • Joint stiffness

  • Aggressive behavior

  • Stunted growth

  • Delayed development, such as late walking or talking

When to see a doctor

Hunter syndrome may be very unusual, but in case you notice modifications in your toddler's facial look, a lack of previously obtained competencies, or other symptoms or signs indexed above, talk to your child's primary care physician. He or she can help you make a decision if you need to see a consultant or are seeking for in addition checking out.

Causes Hunter syndrome(HS)

Hunter syndrome is as a result of a variation within the IDS gene, which incorporates the instructions for the production of a selected enzyme called I2S. This specialized protein is generally determined inside the lysosomes of cells, wherein it allows to interrupt down complicated sugars referred to as glycosaminoglycans (GAGs). Genetic variations in the IDS gene result in a deficiency or a whole absence of I2S, which results in an atypical accumulation of GAGs in the body’s cells.

Babies with Hunter syndrome are born with an X-linked recessive sample. The gene that reasons the condition is positioned at the X chromosome, considered one of  sex chromosomes determined in each cell. Because male toddlers have the handiest one X chromosome, an unmarried altered reproduction of the IDS gene in every mobile is sufficient to cause ailment in boys. Female infants have two X chromosomes so an altered replica of the IDS gene ought to be found in each of those X chromosomes to cause ailment. Women who bring one ordinary X chromosome and one X chromosome with the genetic version for ailment are known as “vendors.”

Hunter syndrome develops when a faulty chromosome is inherited from the kid's mom.

Because of that defective chromosome, an enzyme really needed to break down complex sugar molecules is missing or malfunctioning. Without this enzyme, huge amounts of those complicated sugar molecules acquire inside the cells, blood and connective tissues, inflicting permanent and revolutionary damage.

Risk factors Hunter syndrome(HS)

In humans with the disorder, the body no longer produces any or sufficient of this enzyme. The missing enzyme causes molecules of the sugars to accumulate in organs and tissues all through the frame. These buildups can damage organs and tissues throughout the frame.

There are two foremost danger elements for developing Hunter syndrome:

  • Family history. Hunter syndrome is due to a faulty chromosome, and a child ought to inherit the faulty chromosome to increase the disease. Hunter syndrome is what is called an X-linked recessive disorder, this means that women carry the faulty sickness-causing X chromosome and may skip it on. But mothers aren't affected by the ailment themselves and in all likelihood don't know that they have got this faulty chromosome.

  • Sex. Hunter syndrome nearly constantly occurs in men. Girls are some distance less susceptible to developing this ailment because they inherit  X chromosomes. If one of the X chromosomes is faulty, their ordinary X chromosome can provide a functioning gene. If the X chromosome of a male is defective, however, there isn't always another everyday X chromosome to make amends for the trouble.

Complications Hunter Syndrome

A type of headache can arise with Hunter syndrome depending on the kind and severity of the sickness. Complications can affect the lungs, coronary heart, joints, connective tissue, and mind and apprehensive system.

Respiratory complications

An enlarged tongue, thickened gums, and thickening of the nasal passages and windpipe (trachea) make respiration difficult. Children regularly have continual ear and sinus infections, respiratory infections, and pneumonia.

Sleep apnea, a situation in which respiration is intermittently interrupted at some point of sleep, is regularly given because of airway constriction.

Cardiac complications

Thickening of heart tissue can cause fallacious remains of coronary heart valves. As a result, the heart and different components of the frame don't get hold of blood efficiently. As the disorder progresses, these situations often grow to be worse and usually bring about coronary heart failure.

The thickening of tissue also can motivate narrowing of the aorta and other blood vessels. This in turn can result in high blood pressure and narrowing of arteries inside the lungs.

Skeletal and connective tissue complications

The garage of undigested complex sugar molecules in connective tissues results in abnormalities in bones, joints and ligaments. This reduces your toddler's growth, inflicting pain and bodily malformations and making it hard for him or her to move.

Joint stiffness is because of swelling of joint connective tissues and abnormalities of cartilage and bones. If your toddler is in pain, he or she can possibly circulate much less, which could result in greater stiffness and pain.

The group of abnormalities typically visible within the bones of human beings with Hunter syndrome is referred to as dysostosis multiplex. Children with these abnormalities can expand irregularly shaped vertebrae and spines, ribs, palms, fingers, legs, and pelvises.

Bone abnormalities may also cause many humans with Hunter syndrome to be abnormally brief. Those with milder instances may attain everyday or close-to-regular tops.

Hernias are commonplace in Hunter syndrome. A hernia happens while soft tissue, commonly part of the gut, pokes via a weak spot or tear within the decreased belly wall.

Hernias associated with Hunter syndrome can come to be quite massive and are regularly one of the first symptoms of the disease. Enlargement of the liver and spleen may also cause growth strain inside the stomach, causing a hernia.

Brain and nervous system complications

A type of neurological complications may be present and keep expanding in children with Hunter syndrome.

Many neurological troubles are due to buildup of excess fluids to your child's brain. Pressure from those fluids can motivate other problems which could cause extreme headaches, intervene with vision and alternate your infant's intellectual country.

Your infant may additionally broaden a situation wherein the membranes that surround the spinal twine can also grow to be thick and scarred. This causes stress and compression of the upper spinal wire. As a result, your baby might also develop fatigue in his or her legs and step by step weaken and come to be less bodily energetic.

Other disorders, together with carpal tunnel syndrome, can end result from nerve compression that occurs because of bone deformities and storage of complicated sugar molecules in tissues.

Abnormal behavior can develop in kids with greater-extreme instances of Hunter syndrome. Often your child's mental development will become affected among the ages of 2 and six.

Some kids are hyperactive and have problems paying attention or following guidelines. Your infant may additionally behave aggressively and appear not able to sense risk. As your child's average bodily functioning declines, those conduct troubles tend to turn out to be much less extreme.

Seizures also may additionally arise in youngsters with Hunter syndrome.

Longer recovery from other illnesses

Recovery instances from normal adolescence ailments can be longer for children with Hunter syndrome. As an end result, be sure to take fashionable preventive measures — as an instance, get your baby a flu shot and make certain your toddler gets all necessary vaccinations.

What gene causes Hunter syndrome?

Hunter syndrome also known as MPS II (Mucopolysaccharidosis II) is a rare genetic disorder that causes the body to not produce an enzyme needed to break down certain carbohydrates As a result harmful substances called mucopolysaccharides build up in the cells and tissues of the body Hunter syndrome primarily affects boys but can also affect girls The severity of symptoms varies from person to person.

Can Krabbe disease be cured?

Krabbe disease is a rare genetic disorder that occurs in infants It affects the nervous system and destroys the brain stem which controls consciousness breathing and swallowing Symptoms of Krabbe disease appear before the age of 1 year and include abnormal muscle tone seizures and difficulty walking Damage to the brain stem is progressive leading to death by age 2 or 3 years There is no cure for Krabbe disease Treatment includes supportive care measures such as physical therapy to improve mobility feeding assistance and seizure control with medications Stem cell transplants are being studied as a possible treatment option.

Is there a cure for Hunter syndrome?

There is no cure for Hunter syndrome a rare genetic disorder that causes progressive damage to the body's cells and tissues However researchers continue to search for ways to improve the quality of life for patients living with the disease Most recently doctors at Nationwide Children's Hospital in Columbus Ohio have developed a new treatment called gene therapy that uses stem cells to treat children with Hunter syndrome.

How does enzyme replacement therapy work for Hunter syndrome?

Enzyme replacement therapy is a treatment option for Hunter syndrome It replaces the missing or deficient enzyme that causes the disease There are different forms of enzyme replacement therapies including intravenous infusions and inhaled aerosols for active disease and subcutaneous (under the skin) injections for maintenance therapy.

When is Hunter syndrome diagnosed?

Hunter syndrome is an inherited disorder characterized by progressive damage to the body's cells It affects one in every 200,000 people worldwide The damage occurs because of a deficiency of an enzyme iduronate-2-sulfatase (IDS) which is needed to break down sugars that build up and cause cellular problems These sugar molecules normally attach to proteins and carbohydrates and travel throughout the body to perform various functions -- such as signaling protection movement and storage -- but when they are not broken down properly they can cause problems within a cell.

Prevention Hunter Syndrome

Because it's far genetic, you can not save your Hunter syndrome. People who have a baby with Hunter syndrome ought to speak to a genetic counselor before having some other toddler. This professional can help parents understand the probabilities of passing the sickness on to another toddler.

Hunter syndrome is a genetic disease. Talk to your doctor or a genetic counselor if you're considering having children and you or any individuals of your circle of relatives have a genetic sickness or a circle of relatives records of genetic problems.

If you suspect you might be a provider, genetic exams are to be had. If you already have a baby with Hunter syndrome, you may want to look for the recommendation of a physician or genetic counselor earlier than you have older kids.

Diagnosis Hunter syndrome(HS)

Babies born with Hunter syndrome almost usually seem wholesome at birth. Changes in facial capabilities are often the first important signal that something's no longer proper. Hunter syndrome progresses slowly and its signs and symptoms and signs overlap with a number of different disorders, so a definitive analysis may additionally take awhile.

A urine sample can be checked for the deficient enzyme or for extra amounts of the complicated sugar molecules related to this disease. A genetic evaluation can verify the prognosis.

Doctors often have to rule out other clinical situations first. Your health practitioner may also ask:

  • What symptoms have you noticed?

  • When did you first see them?

  • Do they come and go?

  • Does anything make them better? Or worse?

  • Has anyone in your family had Hunter syndrome or another genetic disease?

If the medical doctors can not find any other explanation for your son's signs and symptoms, they will test for Hunter syndrome by checking for:

  • High levels of that certain sugar in their urine

  • How active the "missing" protein is in their blood or skin cells

  • The abnormal gene

Prenatal testing

Prenatal checking out of the fluid that surrounds the infant (amniocentesis) or of a tissue sample from the placenta (chorionic villus sampling) can verify in case your unborn baby carries a replica of the defective gene or is affected with the sickness.

How do you test for Hunter syndrome?

The diagnosis of Hunter syndrome is based on clinical signs and symptoms and the results of laboratory tests Patients with symptoms suggestive of Hunter syndrome such as developmental delay behavioral problems coarse facial features language difficulties atypical facial movements breathing difficulties and feeding problems should be evaluated for this disorder Blood tests are used to determine whether there is an increased amount of HU protein in the blood plasma HU protein concentrations can also be measured in a tiny sample of skin (skin biopsy) or muscle tissue collected by needle aspiration One downside to this type of test is that it may take several months before an elevated level of HU protein is detected in the blood or tissue.

Treatment Hunter syndrome(HS)

Treatment for Hunter syndrome relies upon the signs. A crew method, with experts in extraordinary areas of know-how, could help manage the capacity issues associated with the situation and give sufferers the satisfactory possible care. The aim of treatment is to sluggish the development of the disorder and enhance fine lifestyles.

The remedy shown to try this best is enzyme replacement therapy. Doctors replace the lacking enzyme with a human-made version of the enzyme, referred to as Elaprase. Doctors typically supply this treatment intravenously (via a needle inserted into the vein) once per week.

Prenatal trying out of the fluid that surrounds the child or of a tissue sample from the placenta can affirm in case your unborn baby carries a replica of the faulty gene or is affected with the sickness.

Relief for respiratory complications

Removal of tonsils and adenoids can open up your infant's airway and help relieve sleep apnea. But because the sickness progresses, tissues maintain to thicken and these problems can come back.

Breathing devices that use air pressure to hold the airway open — together with non-stop fantastic airway stress (CPAP) or bilevel nice airway strain (BiPAP) gadgets — can help with higher airway obstructions and sleep apnea. Keeping your toddler's airway open also can assist avoid low blood oxygen tiers.

Addressing heart complications

Your child's health practitioner will need to watch intently for cardiovascular complications, such as high blood strain, a coronary heart murmur and leaky heart valves. If your toddler has excessive cardiovascular problems, your medical doctor can also recommend surgery to update coronary heart valves.

Treatment for skeletal and connective tissue problems

Because most children with Hunter syndrome do not heal properly and regularly have complications after surgery, options are confined for addressing skeletal and connective tissue headaches. For example, surgical procedures to stabilize the backbone the usage of internal hardware is hard while bones are fragile.

Your toddler's joint flexibility can be advanced with bodily therapy, which helps deal with stiffness and maintain features. But bodily therapy cannot forestall the innovative decline of joint motion. Your infant can also ultimately want to use a wheelchair because of ache and constrained stamina.

Surgery can repair hernias, but because of weak spots in connective tissues, effects generally are not perfect. The technique regularly wishes to be repeated. One choice is to manipulate your baby's hernias with supportive trusses rather than surgery due to the risks of anesthesia and surgery.

Managing neurological complications

Problems related to the buildup of fluid and tissue across the brain and spinal wire are hard to address because of the inherent risks in treating those parts of the frame.

Your infant's physician may also advise surgical procedure to empty extra fluids or take away built-up tissue. If your baby has seizures, your health practitioner may additionally prescribe anticonvulsant medicinal drugs.

Managing behavioral problems

If your child develops unusual conduct because of Hunter syndrome, offering a secure home environment is one of the most essential approaches you could take to control this mission. Treating behavior troubles with medicinal drugs has had limited success because maximum medicines have side outcomes that can worsen other complications of the ailment, including respiration problems.

Addressing sleep issues

The sleep styles of a child with Hunter syndrome can emerge as more and more disorganized. Medications along with sedatives and mainly melatonin can enhance sleep.

Keeping a strict bedtime agenda and making sure your baby sleeps in a well-darkened room also can help. In addition, creating a safe environment for your baby's bedroom — putting the bed on the floor, padding the walls, doing away with all hard furnishings, placing simplest, tender, safe toys within the room — may additionally assist you in making rest less difficult.

Emerging treatments

Some treatments have proven ability for slowing the ailment's progress and lessening its severity, but lengthy-time period results are unknown.

  • Enzyme therapy. This Food and Drug Administration-accredited remedy makes use of guy-made or genetically engineered enzymes to replace your infant's missing or faulty enzymes and ease the sickness signs. This treatment is given once per week via an intravenous (IV) line.
    Given early sufficient enzyme alternative therapy may also postpone or save you some of the signs of Hunter syndrome. It's doubtful, however, if the upgrades visible with this remedy are good enough to elevate the niceness of existence for humans with the disease. In addition, blessings in wondering and intelligence haven't been visible with enzyme replacement remedy.Serious allergic reactions can arise for the duration of enzyme alternative therapy. Other feasible side consequences encompass a headache, fever and skin reactions. Side effects can also reduce over the years or with a dose adjustment, but.

  • Stem cell transplant. This technique infuses healthful blood stem cells into your baby's body with the desire that the brand new cells will create the lacking or defective enzyme. However, treatment results have been combined and extra research is needed.

  • Gene therapy. Replacing the chromosome accountable for producing the missing enzyme may want to theoretically therapy Hunter syndrome, however a good deal greater research wishes to be executed earlier than the sort of therapy is probably to be had.

Coping and support

Joining a raid group for parents of kids with Hunter syndrome can be an awesome way to gain sensible statistics, every day residing strategies and encouragement from different parents in similar conditions to your own. Ask your health practitioner if there may be a set in your vicinity.

The severe supervision that can be needed on your child can motivate you and other caregivers to turn out to be bodily, mentally and emotionally exhausted. If respite care is to be had, take advantage of it so that you may have a smash and be extra powerful in the end to satisfy the day-to-day challenges of being concerned for your baby.

Check together with your county and country for resources that can be to be had to you as a figure of a toddler with unique desires.

Letting others know

Due to a narrow airway, humans with Hunter syndrome frequently have difficulty receiving a respiratory tube during preferred anesthesia. You can also desire to observe this on baby care or faculty bureaucracy so that emergency personnel can be alerted to this fact, if your toddler has an emergency and you are now not there. A skilled anesthesia professional should carry out the intubation of a person with Hunter syndrome.

  1. Healthy foods for the musculoskeletal system
  2. Rehabilitation program and health tips for the musculoskeletal system
  3. Rehabilitation of the tongue and pronunciation : Oral muscle rehabilitation

Preparing for your appointment

You'll probably first convey your concerns about your baby with his or her primary care doctor. Your toddler's physician then will likely direct you to experts for a definitive prognosis and remedy. However, your toddler's primary care doctor generally nonetheless stays worried to assist coordinate your child's health care needs.

Some of the specialists who may be involved in your child's care consist of an ear, nose and throat specialist (otolaryngologist), a heart specialist (heart specialist), a mind and nerve professional (neurologist), an eye specialist (ophthalmologist), a dietitian, and physical, occupational and speech therapists. A geneticist can be involved in making the analysis and in counseling about future pregnancies.

Here's a few records that will help you get equipped on your appointment, and what you might count on from your infant's physician.

What you can do

  • Make a list of any signs or symptoms you've noticed in your child, Which include any that could seem unrelated to Hunter syndrome. For instance, diarrhea is a sign of Hunter syndrome, but one which you won't always hyperlink to behavioral issues.

  • Write down key personal information, Consisting of any non-public or family records of a genetic disorder.

  • Take a family member or friend along, If possible. Sometimes it could be tough to bear in mind all the statistics supplied to you throughout an appointment. Someone who accompanies you may take into account something which you overlooked or forgot.

  • Write down questions to ask your doctor.

Preparing a listing of questions will assist you make certain you cowl all of the factors which might be critical to you. Some basic questions you might need to ask your health practitioner consist of:

  • What is Hunter syndrome?

  • Are there any other possible causes for my child's symptoms?

  • Are any additional tests needed to confirm the diagnosis?

  • What treatments are available, and which ones do you recommend for my child?

  • Does this treatment have any risk?

  • What type of improvement can we expect?

  • What is my child's long-term prognosis?

  • Are there alternatives to the primary approach that you're suggesting?

  • Does my child need to eat a special diet?

  • If my child is in pain, how can I make my child more comfortable?

  • What are your suggestions for handling behavioral issues?

  • What about routine well-child care? Should my child get routine childhood immunizations? Should my child get flu shots?

  • What type of help will my child need in school, and how can I ensure that public schools will provide the educational resources my child needs?

  • If I have any more children, what's the likelihood that I will pass this syndrome on to them? Can I prevent that from happening?

  • Are there any brochures or other printed material that I can take home with me? What websites do you recommend visiting? Are there local resources available for me and my child?

  • Can you recommend someone I can speak with about insurance coverage and other expenses related to the special needs of my child?

In addition to the questions which you've prepared to ask your health practitioner, don't hesitate to invite additional questions that occur to you at some point of your appointment. If it is enabled, take notes.

At the end of your appointment, you can desire to summarize the information you've obtained together with your doctor to make sure you recognize it. Ask for a duplicate of your doctor's medical information for future reference and conversation with other centers.

What to expect from your doctor

Your physician is likely to invite you a number of questions. Being prepared to reply to them may additionally reserve time to move over any factors you want to spend extra time on. Your health practitioner may additionally ask:

  • When did you first notice your child's symptoms?

  • Have other adults mentioned any concerns about your child?

  • Are your child's symptoms present all the time or do they come and go?

  • Do you know if there is a family history of Hunter syndrome?

  • Does anything make your child's symptoms better?

  • What, if anything, appears to worsen your child's symptoms?

General summary

  1. Krabbe disease is a rare and fatal genetic disorder characterized by progressive destruction of the myelin sheath the protective covering around nerve cells Symptoms of Krabbe disease appear in early infancy and ultimately result in death due to respiratory failure There is no cure for Krabbe disease; however treatments such as enzyme replacement therapy (ERT) bone marrow transplantation high-dose intravenous immunoglobulin plasma exchange and thymus transplantation may slow the progression of the disease.

Next Post Previous Post