Neuromuscular & Movement Disorders Division
Through research and clinical trials, the goal of the Neuromuscular Division is to advance diagnostics, prevention, drug development, and treatment to improve outcome of neuromuscular diseases. Research teams with multidisciplinary interests and strengths in basic and clinical science skills work closely to identify and pursue promising new areas of research to improve the lives of patients with these disorders.
Mamatha Pasnoor, MD
John Stanford, PhD
For information about the Parkinson's Disease Center please visit: https://www.kansashealthsystem.com/care/conditions/parkinsons-disease
Movements, and especially skilled movements, are at the foundation of human behavior. We take the ability to make skilled movements largely for granted until suddenly this ability is stolen from us by disease or injury. Our division of the IND focuses on conditions that have in common the fact that they all affect muscle activity and our ability to make movements - amyotrophic lateral sclerosis, peripheral neuropathy, myopathies, myasthenia gravis and Parkinson's disease. Although these conditions all target central and/or peripheral components of the neuromuscular system, their underlying etiology and pathology are fundamentally different.
Neuromuscular physicians and researchers are engaged in translational programs aimed at understanding these disorders and developing new treatments. One of the mechanisms for conducting translational and clinical research within the IND is a program called Frontiers, which has headquarters at KUMC. Frontiers: The Heartland Institute for Clinical and Translational Research is part of a national consortium of NIH-funded Clinical and Translational Science Awards (CTSA).
KUMC is one of 25 sites designated by the National Institute of Neurological Disorders and Stroke to participate in the Network of Excellence in Neuroscience Clinical Trials. At KUMC, this unit is the Heartland Unit for Neuroscience Trials (HUNT).
The Neuromuscular & Movement Disorders Division focuses on these disorders:
Peripheral neuropathy affects 20 million people in the U.S. Initial symptoms include numbness, tingling and pain (burning, aching, electrical) that often interferes with sleep and function. The hands and feet are typically affected. While the causes of neuropathy are numerous, most commonly neuropathy is due to diabetes or prediabetes.
Myopathies are diseases of skeletal muscle in which there is typically proximal muscle weakness without sensory loss. Some myopathies are autoimmune, toxic or due to other acquired causes while others are hereditary. Myopathies are due to a primary structural or functional impairment of muscle including genetic metabolic disorders and disorders of ion channels in membranes (channelopathies) that mediate the electrical signals responsible for muscle contraction. Diseases of muscle structural proteins or muscular dystrophies are caused by mutations in genes encoding for essential membrane or extracellular matrix proteins, sarcomeric components or nuclear envelope molecules. Disorders of muscles can be categorized and subdivided so that it is generally possible to characterize a particular myopathy based on its distinctive features.
Amyotrophic lateral sclerosis (ALS) is a rare mostly sporadic degenerative disease of the adult motor neuron system. In the United States, about 2-3 out of 100,000 people develop ALS per year, and men are affected more frequently than women. It usually presents with focal onset of weakness of the leg or arm or with difficulty with speech or swallowing. Weakness progresses in the area where it presented first and spreads to adjacent areas, until it affects the entire body. Death is usually due to respiratory failure. ALS affects both lower motor neurons in the spinal cord and upper motor neurons in the cerebral cortex, resulting in muscle wasting, twitching and stiffness.
Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction - the junction between motor neurons and muscle that transmit signals for contraction. It affects both genders and any age group with 2 peaks, one in younger women and a second in older men. Initial symptoms include eyelid droop or double vision. Other symptoms include arm or leg weakness, chewing, swallowing or speech difficulty and shortness of breath. MG is responsive to immune system suppression.
Parkinson's disease (PD) is a progressive neurological disorder. Average age of onset is 60 years, but onset can occur as early as the third decade of life or at any point thereafter. It is estimated that over 1,000,000 people suffer from PD in the United States and an additional 50,000 to 60,000 new cases are diagnosed each year. This represents approximately 0.3% of the general population, 3% of persons over the age of 65 and 10% of persons over the age of 80. Although we know that the loss of dopamine in an area of the brain called the substantia nigra is related to the development of PD, the cause of PD is currently unknown.
Multiple System Atrophy is a rare form of Parkinsonism resembling Parkinson's disease but with more rapid disease progression. Currently there are no treatments for Multiple System Atrophy.
Progressive Supranuclear Palsy (PSP) is a rare disorder which is in some ways similar to Parkinson's disease. It involves early problems with speech, balance and eye movement abnormalities. There is currently no treatment for PSP.
According to the Centers for Disease Control, complications from Parkinson's disease are the 14th leading cause of death in the United States. KUMC is the region's leading center for research on the disease and is helping to find new drugs and other treatments for the disease that is expected to increase over the next 20 years due to the country's aging population.
- IND research: Research by IND investigators is answering questions about the mechanisms underlying the efficacy of deep brain stimulation - a very effective mode of treatment in drug resistant Parkinson’s disease. KUMC was one of the original centers involved in the application of deep brain stimulation for Parkinson’s disease.
Our neuromuscular patients are offered the opportunity to enroll in a neuromuscular research database. This ensures that patients have access to research studies as they become available.
- IND research: Our neuromuscular research database includes 4,500 patients.
The KUMC Neuromuscular Section is in one of the busiest, if not the busiest, Neuromuscular Clinical Trials Unit in the USA.
- IND research: We have about 50 to 60 active neuromuscular research protocols with a variety of sponsors. We have a tradition of intramural and extramural collaboration. These research programs cover a wide variety of neuromuscular disorders including ALS, neuropathies, MG and muscle disease.
Peripheral neuropathy has many causes, but compression injury and diabetes are two common causes. Numbness occurs because the signals on sensory nerves traveling to the brain are blocked. Although numbness is troubling by itself, what makes neuropathy even more disabling is that if often develops into a painful condition. Loss of large nerves involved in providing a sense of where your limbs are in space (proprioception) are also affected along with motor nerves leading to progressive loss of muscular function.
- IND research: The mechanisms underlying peripheral neuropathy and potential new therapies are the focus of work currently being pursued by a group of researchers in the IND. Recent work on an animal model of diabetic neuropathy has provided a greater understanding of the pathology affecting sensory neurons involved in pain sensation. Pain neurons have been found to be responsive to either of two neurotrophic factors (NGF or DGNF). New evidence from this group links impaired trophic support to neuropathic neuronal deficits of nociceptive neurons. This works suggests potential new therapies for treatment of diabetic neuropathy.
How do I get involved in neuromuscular research at KUMC?
- Call 913-588-6970 or contact Mazen M. Dimachkie
How do I participate in research trials related to Parkinson's disease?
- Go to kumc.edu/parkinson for more information and a form.
Where is research conducted by the KUMC Neuromuscular division?