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)