Participants being evaluated at the INC sites will participate in both the DSI and HMSN-R-ODS by completing these PROs during their visit.

INC Contact Registry completes the HMSN-R-ODS on web http://rarediseasesnetwork.epi.usf.edu/INC/

Charcot Marie Tooth Disease

Inherited Peripheral Neuropathy

University of Iowa

University of Rochester Medical Center

National Hospital of Neurology and Neurosurgery

Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)

The DSI asks the subject to provide information about how disability is reflected in general by equipment required for mobility. Therefore, the DSI asks the subject if a person in general was wearing AFOs (braces) for mobility, what level of disability would that reflect using both a quantitative measurement of score and a verbal method of scoring (none, mild, moderate, severe). These questions do not apply to the participant themselves, just in general how disabled they believe a person to be based on the mobility assistive devices that that person requires. Then a research team member will complete the last page which specifically asks about what that subject is using for mobility.

The HMSN-R-ODS is a functional score about the subject asking about their daily activities and overall health. Questions are grouped in various sections and include: Changing and holding body positions; walking and movement; movement by transport; carrying, moving, or handling objects; self-care; household activities and duties; taking care (daily tasks) - general; meeting other people; work, study, and hobbies. These questions relate specifically to the subject and ask how they can perform these various activities with little to severe difficulty.

Michael Shy

Professor of Neurology

National Institute of Neurological Disorders and Stroke (NINDS)

Charcot-Marie-Tooth Association

Muscular Dystrophy Association

University of Rochester

University of South Florida

Charcot-Marie-Tooth Disease

Hereditary Motor and Sensory Neuropathies

Placebo

Ascorbic acid 1000 mg (4 capsules of 250 mg) b.i.d. during 1 year

ascorbic acid

Department of Neurology Academic Medical Center University of Amsterdam

Ascorbic Acid Treatment in CMT1A Trial (AATIC)

Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A

C. Verhamme, MD

Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

hereditary sensory and motor neuropathy

asthenia

hereditary sensory and motor neuropathy/asthenia

Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)

Ascorbic Acid Treatment in CMT1A Trial (AATIC)

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