Fukuhara disease, also known as encephalopathy with calcification, poliodystrophy, or FCMD, is a rare and progressive genetic disorder characterized by neurological impairments and physical abnormalities. This condition primarily affects the brain, muscles, and bones.
The symptoms of Fukuhara disease typically appear in early childhood, usually between the ages of 3 and 6 years. These symptoms may include developmental delays, muscle weakness and wasting, intellectual disability, seizures, difficulty swallowing, impaired vision, and loss of mobility. Additionally, individuals with Fukuhara disease often develop calcifications in certain regions of the brain, especially the gray matter.
The exact cause of Fukuhara disease is still not fully understood, but it is known to be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene responsible for the disorder, one from each parent, to develop the condition.
Since there is no known cure for Fukuhara disease, treatment primarily focuses on managing the symptoms and improving the individual’s quality of life. This may involve physical therapy to help maintain mobility and muscle strength, occupational therapy to improve daily functioning, and educational interventions to support individuals with learning difficulties.
In summary, Fukuhara disease is a rare genetic disorder characterized by neurological and physical abnormalities. Although there is no cure, early intervention and supportive care can help manage the symptoms and optimize the individual's well-being.
