IBMPFD
IBMPFD, which stands for Inclusion Body Myopathy with Early Onset Parkinsonism, is a rare genetic disorder affecting muscles and the nervous system. It belongs to a group of conditions known as proteinopathies, where abnormal protein aggregates accumulate in cells. The hallmark features of IBMPFD include muscle weakness and wasting, particularly in the limbs and face, which typically begin in adulthood. A significant characteristic is the early onset of Parkinsonism, which involves symptoms like tremor, rigidity, slow movement, and postural instability, often appearing before the muscle problems become severe.
Genetic mutations in the VCP gene are the primary cause of IBMPFD. This gene provides instructions for
Diagnosis of IBMPFD usually involves a combination of clinical evaluation of symptoms, muscle biopsy to identify