Some symptoms of Marinesco-Sjögren syndrome are often present at birth (congenital) including Diminished muscle tone (hypotonia), a condition sometimes referred to as “floppy baby”. Cataracts can also be present at birth, but more often develop rapidly during early childhood. Cataracts occur when the lenses of the eyes become clouded preventing light from being focused onto the retina and thereby affecting vision. In most cases, Cataracts affect both eyes (bilateral).
Individuals Marinesco-Sjögren syndrome have Difficulties coordinating voluntary movements due to a small cerebellum (cerebellar ataxia). The cerebellum is the part of the brain that plays a role in maintaining balance and posture as well as coordinating voluntary movements. In most cases, ataxia is usually readily evident around the time a child can sit up.
Affected infants may also exhibit significant delays in reaching developmental milestones that require the coordination of physical (motor) and mental activity (psychomotor development) as well as speech. Muscle Weakness may grow progressively worse in adulthood.
As affected individuals age, additional symptoms may become apparent including ataxia that primarily affects the torso (truncal ataxia) and impaired ability to perform rapidly alternating movements (dysdiadochokinesia). The degree of severity of motor dysfunction will vary from one person to another. Many affected individuals eventually can walk with an assistive device such as a walker. Other individuals, however, may require the use of a wheelchair.
The intellectual abilities of individuals Marinesco-Sjögren syndrome can vary greatly. In some individuals intelligence is unaffected; others develop mild to moderate cognitive impairment. Neurological deterioration usually does not occur in Marinesco-Sjögren syndrome or may be extremely slow. In addition, some individuals may have difficulty speaking or slurred speech (dysarthria). Certain symptoms of Marinesco-Sjögren syndrome (e.g., vision problems, speech difficulties) make it easy to underestimate the intelligence of an affected child.
Individuals with Marinesco-Sjögren syndrome usually exhibit growth deficiencies that can ultimately lead to short stature. Short stature refers to individuals who are significantly below average height for a person of the same age and sex. In some cases, affected individuals also have hypergonadotropic hypogonadism, a condition characterized by defective development or function of the ovaries or testes (gonads). Hypergonadotropic hypogonadism causes delays in the start of puberty and the development of secondary sexual characteristics and contributes to the development of short stature.
Less frequently, additional symptoms have been associated with Marinesco-Sjögren syndrome. These symptoms include rapid, involuntary eye movements (nystagmus), misalignment of the eyes (strabismus), and degeneration of the main nerve of the eyes that transmits nerve impulses from the retina to the brain (optic atrophy). A variety of skeletal malformations have been reported including side-to-side curvature of the spine (scoliosis), abnormally short fingers and toes (brachydactyly), and an abnormal “cone-shape” to the end portions of the long bones (cone epiphyses).
Although the severity of Marinesco-Sjögren syndrome can vary from one person to another and some affected individuals may be significantly disabled, lifespan is usually unaffected.