![]() In the infantile form symptoms usually develop shortly after birth.Ĭhildren with sialidosis type II may develop an abnormally enlarged liver (hepatomegaly) and/or spleen (splenomegaly), a specific assortment of bone deformities known as dysostosis multiplex, coarse facial features, delays in reaching developmental milestones, and cognitive impairment. In the congenital form, symptoms are present at birth. Some researchers have proposed including a juvenile form, but other researchers believe that these individuals may have galactosialidosis. Sialidosis type II is generally more severe than sialidosis type I and is often further subdivided into congenital and infantile forms. Intelligence is usually unaffected in sialidosis type I. Such symptoms include seizures, abnormally heightened reflexes (hyperreflexia), an inability to coordinate voluntary movements (ataxia), and sudden, involuntary twitching or jerking of muscle (myoclonus). In addition to walking difficulties and vision problems, additional symptoms may be associated with sialidosis type I. Rapid, involuntary eye movements (nystagmus) and clouding (opacity) of the cornea may also occur. Affected individuals may experience loss of clarity of vision (visual acuity) and may develop impaired color vision and night blindness. The retinas sense light and convert it to nerve signals, which are then relayed to the brain through the optic nerve. Cherry red macules are spots that form on the retina, the thin membrane that lines the back of the eyes. Symptoms of sialidosis type I include the development of distinct red spots in the eyes known as cherry-red macules. Such individuals develop normally until problems with walking (gait disturbances) or vision abnormalities require medical attention. ![]() Individuals with sialidosis type I may develop symptoms anywhere from childhood to young adulthood, with most people developing symptoms during the second or third decade of life. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. It is important to note that affected individuals may not have all of the symptoms discussed below. Sialidosis type I is a milder form of the disorder than sialidosis type II and has later onset. The age of onset, symptoms, progression and severity of sialidosis vary greatly from one person to another. Sialidosis is also classified as one of the mucolipidoses, a subgroup of the LSDs. In sialidosis patients, low levels or inactivity of the neuraminidase enzyme leads to the abnormal accumulation these compounds in the cells with unwanted consequences. Enzymes within lysosomes break down or digest particular nutrients, such as complex molecules composed of a sugar attached to a protein (glycoproteins). Lysosomes are particles bound in membranes within cells that function as the primary digestive units within cells. Sialidosis belongs to a group of diseases known as the lysosomal storage disorders (LSDs). ![]() Sialidosis is inherited as an autosomal recessive trait. Type II often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment. Sialidosis type II is usually more severe than sialidosis type I. Sialidosis type I usually becomes apparent during the second decade of life with the development of sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis is divided into two types (i.e., type I and type II). ![]() Deficiency of neuraminidase results in the abnormal accumulation of toxic materials in the body. Sialidosis, also known as mucolipidosis type I, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase (sometimes referred to as sialidase).
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