As Jim Nantz, the long-time CBS sports announcer, always begins, “Hello, friends!” DrGOpines.com is approaching the end of its 7th year of publishing medical information. To me that’s amazing because continuing a pursuit such as this for seven years means three things: I really enjoy writing about medical information and sharing my opinions, I have much more perseverance than I ever dreamed I had, and I still have all of my mental faculties. For that, I am truly thankful to God.
I plan to keep on with this endeavor, and very much appreciate those of you who are loyal readers and friends. Your comments are always welcomed and usually help me to know if I’m headed in the right direction. In the near future, I plan to occasionally do something a little different. Twice a week I will write about a specific disease and present it as the title above says, “What’s Wrong with this Patient?” Twice a week, I will introduce a patient sharing with you his/her history, physical findings, lab and imaging results and together we will decide, “What’s wrong with this patient?” I realize some folks have no interest in this type of exercise, so I won’t do it every day, but I hope to make the presentations interesting and don’t want to be boring.
Today, is the first case: A 55 year old, previously healthy woman who I’ve seen as a patient for the past 15 years. She comes in today because she has had to quit her favorite recreational activity, golf. Recently, she has experienced a generalized feeling of weakness, especially in her legs, and to a lesser degree in her arms. She has had painful muscle cramps when she walks the golf course, and has found if she walks a hilly course she has a lot of difficulty. On at least three occasions she has lost her balance and fallen.
On physical exam, I notice her speech is a little slurred, her grip strength is diminished when we shake hands, and her leg muscles have visible twitches she can’t control. The motion in her joints is normal, but flexing her joints against resistance, weakness is noted in her ankles, knees, hips, and wrists. She has two signs on exam that point to abnormalities in the nerves of the brain and spinal cord, or the Upper Motor Neurons. Her knee and ankle reflexes are more pronounced than normal. When walking, she is cautious, taking shorter steps, and her balance is a bit unsteady.
Of the tests she had as part of her evaluation, two were very informative:
Electromyogram: a nerve and muscle function test, is abnormal. It shows her muscle fibers are losing their nerve supply, there are spontaneous twitches in the muscles, but the nerves are not stimulating the muscles to function as they should. What nerve activity there is is very slow.
MRI imaging: Brain—shows thinning of the cortex (brain surface layer), hyperintensity of the nerves to the spinal cord at the site of origin. Spinal cord—shrinkage of the spinal cord and nerve fibers in the cord that connect to the nerves to the extremities. These are signs of degeneration of the brain and spinal cord.
WHAT’S WRONG WITH THIS PATIENT?
A lot is wrong. Muscle weakness, cramping, physical limitations, abnormal nerve function tests, and abnormal brain and spinal cord MRI.
Her history, exam findings, and tests all point to a chronic, progressive, neurodegenerative disorder of the nerves to the extremities that affects the brain, spinal cord, and the peripheral nerves that control voluntary muscle movements. She is weak, unsteady, and disabled. This disease usually affects adults age 50-75, is progressive and has no cure. Patients usually live 3-5 years after onset of symptoms and die of respiratory failure caused by degeneration of the nerves that facilitate breathing. It is a dreaded, feared, and devastating disease. Her prognosis is poor.
What’s wrong with this patient? Everything is consistent with the diagnosis: Amyotrophic Lateral Sclerosis, ALS, Lou Gehrig’s Disease
References: www.google.com/viewarticle/emg-findings-in-als
