What is Congenital Fiber Type Disproportion

Congenital Fiber Type Disproportion (CFTD) is a rare genetic muscle disorder that affects the structure and function of skeletal muscles. It is characterized by an imbalance in the size and distribution of muscle fibers, with some fibers being smaller or larger than normal. This condition is present from birth and can lead to muscle weakness, poor muscle tone, and delayed motor development.

CFTD is typically diagnosed through a muscle biopsy, which involves removing a small sample of muscle tissue for examination under a microscope. The biopsy reveals a disproportionate distribution of muscle fiber types, with a higher proportion of type 1 fibers (slow-twitch) compared to type 2 fibers (fast-twitch).

Although the exact cause of CFTD is unknown, it is believed to be caused by genetic mutations that affect the development and function of muscle fibers. In some cases, CFTD may be inherited in an autosomal dominant or recessive manner, while in others it may occur sporadically without a family history.

Treatment for CFTD focuses on managing symptoms and improving quality of life. This may involve physical therapy to strengthen muscles, assistive devices to aid mobility, and respiratory support if breathing difficulties arise. Ongoing medical care and support from a multidisciplinary team are essential to address the specific needs of individuals with CFTD.