Fukuhara Syndrome is a rare genetic disorder characterized by a range of symptoms that primarily affect the brain, muscle coordination, and the kidneys. This condition is inherited in an autosomal recessive pattern, meaning that both parents must carry and pass on the gene mutation for their child to develop the disorder.
Individuals with Fukuhara Syndrome typically experience progressive intellectual disability, delayed development, and impaired muscle control. They may also have muscle weakness, especially in the face, leading to characteristic facial features such as a flat midface, short nose, and widely spaced eyes (hypertelorism). In addition, people with this syndrome may develop dystonia, a repetitive muscular contraction causing abnormal postures and movements.
Another prominent feature of Fukuhara Syndrome is kidney dysfunction, which can manifest as renal tubular acidosis, a condition where the kidneys are unable to effectively regulate acid levels in the body. This can result in a variety of symptoms, including excessive thirst, frequent urination, dehydration, and an imbalance of electrolytes.
Fukuhara Syndrome is caused by mutations in the nuclear-encoded mitochondrial translation factor gene called RMND1. This gene provides instructions for producing a protein that plays a crucial role in the function of mitochondria, the powerhouses of cells. Mitochondria are responsible for generating energy, and defects in RMND1 impair mitochondrial protein synthesis, leading to the characteristic symptoms seen in Fukuhara Syndrome.
Treatment for Fukuhara Syndrome is primarily focused on managing the symptoms and complications associated with the disorder. Supportive therapies such as physical and occupational therapy, speech therapy, and special education programs can help improve quality of life for affected individuals. The prognosis for individuals with Fukuhara Syndrome is generally poor, and the disorder is often life-limiting.
