Introduction
Genes play an essential role in the development of the individual. The genes are made of deoxyribonucleic acid (DNA), which are the building blocks containing coded instructions for maintaining the body. They help to provide the characteristic traits possessed by individuals at birth. Genes are acquired from either parent. Therefore, if any of the parents has a defective gene, it may be passed down to the children resulting in various genetic diseases and disorders.
Marinesco-Sjogren syndrome is a genetic condition that affects children and causes physical and mental disabilities from childhood to adulthood. Hence it is crucial to know in detail about the syndrome, its symptoms, and the various organs affected to provide necessary care and support.
What Is Marinesco-Sjogren Syndrome?
Marinesco-Sjogren syndrome is a genetic (genes are the physical and functional unit of heredity) disorder affecting various organs in the body. It is a rare condition affecting both males and females. Although this syndrome causes physical disabilities, the lifespan of the individual is usually unaffected.
What Are the Other Names for Marinesco-Sjogren Syndrome?
Marinesco-Sjogren syndrome is also known as:
-
Marinesco-Garland syndrome.
-
Garland-Moorhouse syndrome.
-
Hereditary oligophrenic cerebello-lental degeneration.
What Are the Causes of Marinesco-Sjogren Syndrome?
Marinesco-Sjogren syndrome is due to the gene mutation of SIL 1 (nucleotide exchange factor). It is an autosomal recessive trait in which the condition is passed down from the parent to the offspring (child). The child receives a copy of the mutated (changed) gene from each parent, although the parents do not exhibit the condition. If only one of the genes is mutated and the other gene is not affected, the individuals do not display the symptoms of this syndrome.
What Are the Signs and Symptoms of Marinesco-Sjogren Syndrome?
Marinesco-Sjogren syndrome is a congenital (at birth) disorder. So most signs and symptoms are present at birth. The most common symptoms are:
-
Cerebellar Ataxia:
The brain has three main parts, which are the forebrain, midbrain, and hindbrain. The hindbrain is divided into pons, cerebellum, and medulla oblongata. The cerebellum plays an important role in maintaining the balance and posture of the body. It also helps in the coordination of motor activity. Motor activity refers to the movement of muscles. Cerebellar ataxia occurs due to an injury to the cerebellum. Sometimes cerebellar ataxia is accompanied by cerebellar atrophy. Atrophy is the wasting of muscles or tissues in the body.
-
Cataract:
A lens is a transparent structure present behind the iris of the eye. Iris is the colored part of the eye that controls the muscles accommodating the entry of light. In cataracts, the lens appears cloudy. Due to clouded vision, the individual with cataracts may have difficulty in reading and driving at night. It usually affects both eyes.
-
Nystagmus:
Nystagmus is an eye problem characterized by the rapid movement of the eyes in either up-down or side-to-side direction. It may be due to the improper functioning of the areas of the brain that control eye movement.
-
Dysarthria:
In dysarthria, the muscles involved in producing speech are damaged or paralyzed. It is a motor speech disorder. Hence, individuals with dysarthria are unable to control the muscles of the tongue and larynx (voice box), resulting in slurred words.
-
Myopathy:
Myopathy is characterized by muscle weakness due to improper functioning of the muscle fibers. The symptoms of myopathy include muscle stiffness, cramps, and spasm.
-
Growth Deficiency:
Individuals with this syndrome may have growth deficits causing short stature.
-
Psychomotor Delay:
Psychomotor delay is the retardation of mental and physical abilities. The affected individuals may exhibit slow thinking and irrelevant movement.
-
Hypogonadotropic-Hypogonadism:
This condition is characterized by little or no production of sex hormones.
How Is Sjogren Syndrome Different From Marinesco-Sjogren Syndrome?
Sjogren’s syndrome is an autoimmune condition in which the immune system affects healthy cells, considering them foreign particles. The most common symptoms are xerostomia (dry mouth) and dry eyes. The condition is treated with artificial tears to keep the eyes moist and prevent them from drying. In addition, xerostomia is treated with artificial saliva or saliva substitutes to improve salivary secretion. Saliva is a clear liquid made by several glands in the mouth. Saliva cleanses the mouth, helps to dissolve food, fights against germs, and prevents bad breath. This syndrome is often confused with the Marinesco-Sjogren syndrome.
How Is Marinesco-Sjogren Syndrome Diagnosed?
The diagnosis depends on identifying the characteristic findings. The diagnosis can be confirmed with detailed patient history and thorough clinical examination. A variety of specialized tests like
-
Ophthalmologic (Eye) Test - It is a test done to examine the eyes. In this syndrome, it is useful to examine cataracts.
-
MRI (Magnetic Resonance Imaging) Scan - MRI is a medical imaging technique that creates images of organs and tissues in the body. It is useful for identifying changes in the brain.
What Is the Differential Diagnosis for Marinesco-Sjogren Syndrome?
The symptoms of Marinesco-Sjogren syndrome are similar to CCFDN (congenital cataract facial dysmorphism and neuropathy) syndrome. Marinesco-Sjogren's syndrome can be mistaken for CCFDN syndrome very often as the symptoms of both these syndromes are similar. In addition to the symptoms of Marinesco-Sjogren syndrome, individuals with CCFDN syndrome may exhibit neurological diseases.
What Is the Treatment For Marinesco-Sjogren Syndrome?
There is no specific treatment for Marinesco-Sjogren syndrome. Treatment is usually directed towards symptoms occurring in an individual and providing supportive care.
-
Cataracts - In patients with cataracts, surgery is done to remove the lens, and it is replaced with an artificial lens for clear and better vision.
-
Walking Disabilities - Patients with walking disabilities are advised to use orthotic devices like walkers. The walker provides a wider base of support to stabilize patients with poor balance. Sometimes, a wheelchair may be required.
-
Dysarthria - Dysarthria is treated by following exercises to strengthen the muscles of the mouth and speech therapy.
-
Hypogonadotropic-Hypogonadism - In individuals with hypogonadotropic-hypogonadism, hormone replacement may be done at the time of puberty.
-
Genetic Counseling - It gives detailed knowledge of the genetic conditions that may affect the family, and educational programs customized to the individual's requirements are beneficial. Early intervention and treatment can help with better outcomes.
Conclusion
Marinesco-Sjogren syndrome is a genetic condition affecting children. The defective gene could be transferred to the child through any one of the parents. Usually, the symptoms develop at birth and gradually worsen as the individual ages. It affects various parts of the body, however, the lifespan of an individual remains unaffected. Diagnosis and intervention at the right time and age can help treat the symptoms to lead a better life.
