Sickle Cell Anaemia To Lysosomal Storage Disorders: 10 Rare Diseases In Children

Lysosomal Storage Disorders: This category includes a variety of rare hereditary diseases in which lysosomes, the cell's recycling centers, fail and accumulate harmful compounds in the body. Examples include Gaucher disease and Tay-Sachs disease. The most common findings of Tay-Sach disease is cherry red spots in the eye, Vision and hearing loss, and seizures. However there are no cures for Lysozomal Storage Disorders, a few treatments include Enzyme replacement therapy involving injecting a missing enzyme into the body, and substrate reduction therapy which reduces the accumulation of substances in cells. (Image source: getty images)

Duchenne Muscular Dystrophy: Muscle atrophy and weakness are symptoms of the degenerative genetic disorder known as Duchenne muscular dystrophy. It generally first manifests in early childhood and primarily affects boys. This condition manifests as falls, ambulation difficulties, a waddling gait, and hypertrophied calf muscle. Medication such as corticosteroids and physical therapy are supportive therapies to improve quality of life. (Image Source: getty images)

Achondroplasia: Dwarfism is the most obvious physical symptom of this kind of illness. It is distinguished by a large head, extremely short limbs, and diminutive height. As this sickness is caused by a genetic mutation, it affects people whose parents are of average height. Hormone injections can be used as a therapy to enhance height, and in rare instances, surgery may be necessary to straighten the aberrant curvature of the spine. (Image source: getty images)

Sickle Cell Anemia: Sickle Cell Anaemia is a hereditary blood disorder characterised by crescent-shaped red blood cells and decreased oxygen flow, both of which exacerbate lysis of red blood cells Infections, exhaustion, and discomfort, mild jaundice are among this disease's most prevalent symptoms. On the other hand, medicines, blood transfusions, and, bone marrow transfusions are used as treatments for the condition. (Image source: getty images)

Haemophilia: A Rare bleeding sickness marked by protracted bouts of bleeding and potentially lethal outcomes from inadequate blood clotting. The most prevalent signs and symptoms of this illness are blood in the urine and feces, joint discomfort, and unexplained bleeding. In addition to administering clotting factors, factor VIII replacement is a form of therapy. (Image source: getty images)

Cystic Fibrosis: A hereditary disease that damages the digestive tract and lungs, causing a build-up of thick, sticky mucus that impedes breathing and causes digestive problems. Though they might vary, the symptoms include greasy stools, coughing, recurrent lung infections, and difficulty gaining weight. (Image source: getty images)

Progeria: Progeria is a rare, non-inherited genetic illness that causes children to age faster than they should. It can lead to other linked health issues as well as premature aging. Progeria has no known cure, although medicine may lessen symptoms or stop the disease's development. (Image source: getty images)

Albinism: A group of inherited diseases known as albinism results in light-colored hair, pale complexion, and problems with eyesight because the skin, hair, and eyes do not contain enough melanin pigment. Although there is no known therapy for the condition, it can be managed with proper eye care and skin monitoring. (Image source: getty images)

Charcot-Marie-Tooth Disorder: A group of inherited neurological disorders referred to as Charcot-Marie-Peripheral nerve injury from tooth diseases results in muscle weakness and sensory loss, particularly in the hands and feet. Appropriate physiotherapy, occupational therapy, and painkillers are all part of the treatment. (Image source: getty images)

Down Syndrome: A chromosomal condition is when a kid is born with distinctive facial traits. It also has an impact on the child's intellectual capacity. Trisomy 21 results from improper cell division that produces additional genetic material from chromosome 21. Early intervention initiatives, comprising a group of therapists and special educators who can address each child's particular situation, are used to manage Down syndrome. (Image source: getty images)

Inputs by: Dr. Radha Rama Devi MD (Peds), Consultant, Cert. in Genetic Engineering, Fellow in Inborn Errors of Metabolism (UK), Pediatrician - Genetics Rainbow Children's Hospital, Banjara Hills, Hyderabad. (Image Source: Getty)