Hunter syndrome is progressive and can be early and slowly progressive depending on the type.
There are 2 forms of Hunter syndrome which are the early progressive and slowly progressive forms of Hunter syndrome.
Girls can in rare cases have Hunter syndrome but Hunter syndrome occurs mostly in male children.
Although people assigned female at birth can also be carries of the genetic mutation which causes MPS II.
Hunter syndrome most often starts and begins shortly after the age of 2.
Although Hunter syndrome can sometimes start later and cause less severe symptoms to appear later in life.
A diagnosis of Hunter syndrome is most often suspected in young people who display signs and symptoms of the condition.
Characteristic changes in the facial features provide the main initial warning that a child may have Hunter
In most cases, the diagnosis of Hunter syndrome is usually made at around 2 to 4 years of age.
The first signs of Hunter syndrome are skeletal problems, hearing loss, frequent ear infections, joint problems, short stature, large liver and spleen and prominent or larger or more noticeable facial features.
Hunter syndrome also known as MPS II is caused by a lack of the enzyme iduronate sulfatase.
Without this enzyme, chains of sugar molecules build up in various body tissues, causing damage.
The early-onset, severe form of the Hunter syndrome disease begins shortly after age 2.
A late-onset, mild form of Hunter syndrome causes less severe symptoms to appear later in life.
Children with the severe phenotype of Hunter syndrome show developmental delay and changes in behavior patterns at about 18 months to 4 years of age.
To varying degrees, people with the severe form manifest behavioral disorders such as hyperactivity, aggression, impulsivity, anxiety and sleep disturbances.
Hunter syndrome usually affects how the boy looks: Large, round cheeks.
Broad nose. Thick lips and a large tongue.
Early diagnosis of Hunter syndrome is vital for disease management.
Clinical signs of Hunter syndrome that are common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems.
Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a progressive, multisystemic disease caused by a deficiency of iduronate-2-sulfatase.
People with the severe form of the disease have cognitive impairment and typically die in the second decade of life.
Hunter syndrome or mucopolysaccharidosis (MPS) type II is a rare, X-linked metabolic disease with an estimated prevalence at birth in Europe of 1/166,000.
This disease belongs to the group of lysosomal storage disorders.
Neurological signs and symptoms of Hunter syndrome that may be evident in those having either the neuronopathic or non-neuronopathic phenotypes include seizures, optic nerve compression, hearing impairment, sleep apnoea, hydrocephalus, carpal tunnel syndrome, spinal cord compression and cervical myelopathy.
MPS II is a variable, progressive, multisystem disorder.
In most people with Hunter syndrome, symptoms are severe and death occurs at an early age.
In other people the Hunter syndrome disease has a more chronic and protracted course.
The age of presentation of MPS II is also variable, as are the presenting signs and disease complications.