Introduction:
A genetic disorder is very common these days, generally received from parents to the child when there is a mutation in a single gene, multiple genes, or a chromosomal abnormality. The mutation can occur before embryonic development or be inherited from two parents who are the carriers of faulty genes or from a parent with the disorder. When the disorders are inherited, they are hereditary; some are present before birth, and some produce congenital disabilities. A prevalent genetic disease involves cancer which involves multiple genetic mutations of cells. Due to a large number of genetic disorders, approximately one in twenty-one people are affected by the genetic disorder, which is called rare. It is very important to undergo genetic testing for the family trying to find the etiology.
What Are the Common Types of Rare Genetic Diseases?
There is a plethora of rare genetic disease which involves various symptoms and can be treated, and they are:
1. Alagille Syndrome: It is a genetic disorder that can affect the liver, heart, and other body parts. One of the common body parts affected is liver damage caused by an abnormality in the bile ducts, which is they become narrow, malformed, and reduced in number.
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Symptoms: It includes a yellowish tinge on the skin and sclera of the eye, itchiness on the skin, and accumulation of cholesterol beneath the skin. Specific changes on the face are a pointed chin, a prominent head, and deep-set eyes.
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Treatment: It is generally non-treatable, but patients can undergo surgeries for heart, kidney, or liver damage.
2. Aicardi Syndrome: It is a very rare genetic disorder that affects only girls as it is caused due to a defect in the X chromosome that affects the corpus callosum, which is the part of the brain separating the left and right parts of the brain.
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Symptoms: They include seizures and retinal abnormalities and are very serious conditions.
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Treatment: This disorder has no cure and can be managed only by controlling the severity.
3. Alkaptonuria: It is caused due to abnormality in the tyrosine metabolism disturbance, also called black urine disease, which results in the accumulation of toxic tyrosine in the blood.
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Symptoms: It includes darkening of skin and pigmentation on the sclera.
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Treatment: No specific treatment but intake of vitamin-C-rich food is helpful.
4. Alstrom syndrome: It is a rare autosomal recessive disorder causing multiple organ damage.
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Symptoms: It involves childhood obesity, hearing loss, and vision.
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Treatment: Medication can be provided to cure specific conditions.
5. Apert Syndrome: This results in a distorted shape of the skull and face; hands and feet are webbed.
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Symptoms: Include sinus infection and short stature.
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Treatment: Surgery can be done to treat or manage the condition.
6. Batten Disease: It begins in childhood and affects the nervous system.
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Symptoms: Starts from five to ten years, when a normal child starts facing blurry vision and seizures.
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Treatment: It is fatal at the age of twenty.
7. Bardet- Biedl Syndrome: It is a rare genetic disorder affecting multiple organs.
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Symptoms: Obesity, kidney damage, vision impairment, impaired motor, and developmental abnormality are the symptoms.
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Treatment: Individual parts can be treated.
8. Camurati- Engelmann Disease: It is a kind of bone- dysplasia.
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Symptoms: Thickening of the bone results in chronic pain. Skull bone also thickens, resulting in pressure on the brain, causing various neurological disorders.
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Treatment: Glucocorticoid is proven to help treat the condition.
9. Carpenter Syndrome: It is characterized by a malformed head, face, fingers, and toes due to premature fusion of bones.
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Symptoms: Includes odd-shaped head, obesity, short stature, and reduced mental ability.
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Treatment: Includes several stage surgeries to reduce the bone defect.
10. Familial Idiopathic Basal Ganglia Calcification: Fahr’s syndrome is characterized by abnormal calcium deposits in the basal ganglia and cerebral cortex.
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Symptoms: Involves fatigue, clumsiness, muscle cramping, mental illness, and uncontrolled movement.
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Treatment: Treatment is generally symptomatic.
11. Hereditary Angioedema: Quicke’s disease is caused by an abnormality in the function of a protein called the C1 inhibitor gene, which affects the blood vessels.
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Symptoms: Includes swelling of arms, legs, eyes, and throat with abdominal pain and airway blockage.
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Treatment: Following medications like painkillers and hormonal treatments.
12. Joubert syndrome: It is a genetic disorder of the brain characterized by the absence of cerebellar vermis.
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Symptoms: Include a lack of muscle control, abnormal breathing patterns, jerky eye movements, and physical deformities.
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Treatment: Treatment is generally symptomatic.
13. Kartagener’s Syndrome: It causes chronic lung disease.
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Symptoms: Includes difficulty in breathing, chronic cough, wheezing, sinusitis, bronchitis, and infertility.
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Treatment: Bone marrow transplantation proved to be helpful.
14. Krabbe Disease: It leads to destruction in the brain cells due to a disorder in the nervous system's myelin sheath.
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Symptoms: Include vomiting, seizures, mental illness, deafness, and blindness.
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Treatment: Can be treated with the help of stem cells from umbilical cord blood storage.
15. Meckel syndrome: Individuals usually die just during or shortly after birth due to its severity.
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Symptoms: It has severe symptoms, including a malformed central nervous system and cysts in the kidney and lungs.
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Treatment: Cardiac repair or neurological treatment.
16. Mucopolysaccharidosis VI: Caused due to deficiency of N-acetylgalactosamine 4-sulfate results in accumulation of dermatan sulfate in some organs.
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Symptoms: Short stature, mental retardation, respiratory disease, deafness, and blindness.
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Treatment: In this, the possible treatment is enzyme replacement therapy.
17. Pfeiffer Syndrome: Abnormal fusion of skull bone.
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Symptoms: Broad forehead, bulging eyes, beaked nose, short, broad thumbs and toes.
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Treatment: In this, the possible treatment is craniofacial surgery.
What Are the Problems Faced by the Patients and Their Families?
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Because of social isolation, difficulties in receiving adequate health care treatments, delay in diagnosis, uncertainties about their future, and financial challenges, rare diseases (RDs) patients and their families encounter a significant psycho-socioeconomic burden.
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Most RDs are debilitating, impairing patients' overall skills and significantly reducing their quality of life and life expectancy. About half of all RDs occur in childhood, making treatment difficult or impossible for young patients.
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Many patients purposefully avoid therapeutic consultations due to fear of social stigma, compounded by a lack of understanding about their health condition (hereditary or genetic). This, in turn, directly influences the credibility of patient registries because these patients are not registered in hospitals.
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Patients frequently need help locating professional doctors with extensive knowledge and expertise in clinical genetics. Clinicians with extensive skills and experience in the services of RDs are typically concentrated in geographically scattered specialist clinics, which may be beyond reach for most patients or require them to travel considerable distances.
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These variables contribute to delay in diagnosis, misdiagnosis, or no diagnosis, and, eventually, no viable patient therapies.
Conclusion:
According to the above-mentioned rare genetic disorders, it is understood that they are commonly untreatable but can only be managed and are caused due to abnormalities in the genetic makeup of individuals. Early diagnosis of the disease can help a person control the symptoms.
