Principal Investigator: Michael Benatar, MD, PhD
IBMPFD is a rare disorder in which affected individuals may have muscle weakness, Paget’s disease of bone and/or dementia. Muscle weakness in this disorder has typically been attributed to a disease of muscle known as inclusion body myopathy (IBM). The only identified genetic cause of IBMPFD is mutation of the VCP (valosin-containing protein) gene, although mutations in other genes are believed to cause IBMPFD in families without VCP mutations. We have recently found that mutations in VCP may also cause familial ALS and that ALS sometimes occurs in families with IBMPFD. Based on these observations, the goal of this study is to further explore the extent to which muscle weakness in people with IBMPFD might be due to motor neuron degeneration.
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