raises awareness of pompe disease

International Pompe Day, April 15, Raises Awareness of Rare Disease

On Saturday, April 15, the international Pompe community will raise awareness of Pompe disease through International Pompe Day. Reflecting the importance of movement for those living with Pompe, this year’s annual event slogan is “Every Move Counts.” “We all have different abilities and levels of disability, but the important thing to remember and focus on …
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Austin Neuromuscular Center In-House Skin Biopsy Lab Offers Option for Fast, High-Quality Sample Evaluation

When a patient experiences sensations including pins and needles, burning, stabbing, itching or prickliness, they may have small fiber neuropathy, a condition that is diagnosed through a skin punch biopsy. Small nerve fibers connect pain receptors in the skin to the spinal cord and brain and can stimulate internal organs like the heart, gastrointestinal tract …
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ALS Clinic Offers Patients Holistic, Multidisciplinary Care

When author Scott Blackwood was diagnosed with amyotrophic lateral sclerosis (ALS, commonly known as Lou Gehrig’s disease), he was shocked. Early symptoms of the disease are varied, gradual and mimic other conditions, so those other conditions had to be eliminated before he was officially diagnosed. ALS is a rapidly progressive neurodegenerative disease that attacks nerve …
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Celebrity Diagnosis Raises Awareness of Rare Stiff Person Syndrome

When singer Celine Dion recently announced that she was diagnosed with stiff person syndrome (SPS), it created an opportunity for many to learn about this rare autoimmune neurologic disorder that affects only one in a million people. SPS makes torso and limb muscles progressively rigid and causes severe, painful muscle spasms. While SPS is not …
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Strong Link Found Between Long COVID and Dysautonomia

While COVID-19 isn’t the big mystery it was in 2020, the world is still continually learning more about the virus. Post-acute sequelae of COVID 2019 (PASC, commonly called long COVID), symptoms that persist more than 30 days after contracting the virus, continues to affect almost 20 percent of people who have been infected with COVID-19. …
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Former Green Beret, Mountaineer Tells of Life with IBM

Former Green Beret and current Austin Neuromuscular Center (ANC) patient Terry Clevinger has always had to work harder than most. He’s persistent but has struggled with the physical side of work and life, even throughout his military career. Despite the challenge, he climbed some of the world’s tallest peaks and for many years, lifted weights and ran. …
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Meet Casey Kafena, MSN, AGACNP-BC, our Director of Clinical Services

Casey Kafena is our nurse practitioner and Director of Clinical Services. She works very closely with all of our physicians and provides very compassionate care to our patients. She created and currently manages our ALS clinic and is involved in most areas of our practice. Why did you choose to specialize/work in neuromuscular disorders? I have …
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What is Charcot-Marie-Tooth Disease?

Nearly 3 million people in the world, including 150,000 in the United States, have Charcot-Marie-Tooth Disease (CMT), a group of inherited disorders that damages the peripheral nerves that transmit information between the brain and the rest of the body. Also called hereditary motor and sensory neuropathy, CMT can result in smaller, weaker muscles and causes …
emg testing

Electromyography (EMG): A Helpful Tool in Diagnosing Neuromuscular Disorders

When a patient comes to Austin Neuromuscular Center with numbness, tingling, pain, weakness or muscle cramping, an electromyography (EMG) may be used to evaluate the presence, location and extent of a neuromuscular disorder. An EMG measures electrical activity in the muscles during rest, slight contraction and forceful contraction. During EMG testing, a physician inserts a …