Muscle function in familial dysautonomia and other hereditary sensory and autonomic neuropathies

Brief description of study

The purpose of this study is to examine muscle function in patients with familial dysautonomia (FD) and other hereditary sensory and autonomic neuropathies (HSAN) using non-invasive methods (Magnetic Resonance Imaging and blood tests) as well as invasive methods (muscle biopsy). Magnetic Resonance Imaging (MRI) uses magnets to take images of the body. A muscle biopsy is a collection of a small piece of muscle tissue. HSAN and FD are rare genetic diseases that affect normal function of the nervous system (brain and spinal cord) and skeletal muscles.


Clinical Study Identifier: s14-01192
Principal Investigator: Horacio Kaufmann.
Other Investigator: Jose Alberto Palma Carazo.


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