Tome–Brune–Fardeau syndrome

Tome-Brune-Fardeau syndrome, also known as Centronuclear Myopathy, is a rare genetic disorder characterized by muscle weakness (myopathy) that can vary in severity and onset. The condition is named after the researchers who first described it, highlighting its distinct pathological feature: the centralization of nuclei in muscle cells, which is contrary to the normal peripheral location of nuclei in these cells. This centralization affects muscle fiber function, leading to the symptoms observed in affected individuals.

Symptoms and Diagnosis

The symptoms of Tome-Brune-Fardeau syndrome can range from mild to severe and may include muscle weakness, decreased muscle tone (hypotonia), difficulty in feeding, respiratory problems, and developmental delays in motor skills such as sitting and walking. The severity and onset of symptoms can vary widely among individuals, with some showing symptoms at birth (congenital form) and others developing symptoms later in childhood or adulthood.

Diagnosis of Tome-Brune-Fardeau syndrome is based on clinical examination, family history, and confirmed through genetic testing. Muscle biopsy may also be performed, where the characteristic centralization of nuclei in muscle fibers can be observed under a microscope.

Genetics

Tome-Brune-Fardeau syndrome is primarily inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. However, there have been cases reported with an autosomal dominant pattern of inheritance. The condition is associated with mutations in several genes, including the MTM1 gene, which is the most commonly implicated. These genes are involved in muscle development and maintenance.

Treatment and Management

There is currently no cure for Tome-Brune-Fardeau syndrome. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to enhance muscle strength and mobility, respiratory support for those with breathing difficulties, and nutritional support for individuals with feeding problems. Regular follow-up with a multidisciplinary team of healthcare providers is essential for monitoring the progression of the disease and adjusting treatment plans as necessary.

Prognosis

The prognosis for individuals with Tome-Brune-Fardeau syndrome varies depending on the severity of symptoms and the age of onset. Early intervention with supportive therapies can improve the outcome for some individuals. However, those with severe forms of the disease, especially those with significant respiratory involvement, may have a shortened lifespan.

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