Descriptions of the various neuromuscular diseases and related issues including diagnosis, cause, treatment, and research.
Acid Maltease Deficiency (AMD)
Acid Maltease Disease (AMD), which is also called Pompe Disease, leads to progressive weakness of the mucles in the hips, upper legs, upper arms, and respiratory system. The infantile onset form also affects the muscles of the heart.
Amotrophic Lateral Sclerosis
Amotrophic Lateral Sclerosis (ALS) is one of the motor neuron diseases. It affects the muscles of the legs and arms, throat, and mouth, and eventually involves all of the voluntary muscles, affecting eating and respiration, causing paralysis leading to death. May is ALS Awareness Month.
Balance, Darkness, and CMT
The sudden darkness in the movie theater caught me off guard, and, off balance, I could not walk. I found that I had to wait until my eyes adjusted to the dim light enough to aid my balance to begin walking again. Soon, however, I was headed up the steps and to my seat to enjoy the movie.
Book Review of Peripheral Neuropathy
What do numbness, shooting, difficulty with balance loss of muscle strength, and loss of bladder control all have in common? Each of these can be symptoms of peripheral neuropathy, as explained in the book Peripheral Neuropathy: When the Numbness, Weakness, and Pain Won’t Stop by Norman Latov.
Charcot Marie Tooth Disease (CMT)
Learn about the neuromuscular disease Charcot Marie Tooth Disease, the most common form of hereditary neuropathy.
Congenital Muscle Disease Registries
Recently, several new registries for individuals with various forms of congenital muscle disease have been started. These registries create databases in order to improve awareness, research effectiveness, and communication. Participation is voluntary and confidentiality will be protected.
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is one of the nine types of muscular dystrophies. The muscular dystrophies are a group of degenerative genetic diseases affecting the voluntary, and sometimes involuntary, muscles. DMD is caused by a problem in the gene that produces a protein called dystrophin.
Experiencing Foot Drop
Yesterday, I tripped over my own toes. This actually happens fairly often to me. One of the effects of Charcot Marie Tooth (CMT), the neuromuscular disease that I have been diagnosed with, is called foot drop.
Friedreich’s ataxia (FA) refers to a form of neuromuscular disease in which ataxia is the primary symptom. Bone irregularities, bladder control problems, and sensory problems can also occur. This disease was first described in 1863 by Nikolaus Friedreich.
Genetic Testing - To Test or Not to Test?
Many neuromuscular disease diagnoses can now be confirmed by genetic testing. But many facing the decision to test or not to test may have questions about whether or not to pursue genetic testing. These questions may become even more complicated when children are involved.
Help Cure CMT! [offsite link]
Since being diagnosed with Charcot Marie Tooth disease a few years ago, I have made it my mission to help educate and support others with CMT and to help raise awareness about CMT. Please join me now in helping to raise funds for research into a cure for CMT.
Hip Problems and Neuromuscular Disease
Until my recent injury, I had not considered the possibility that Charcot Marie Tooth could affect my hips. Neuromuscular disease can be a significant risk factor in the development of problems of the hip, however, including structural abnormalities, hip displacement, and arthritis.
Ice Bucket Challenge for ALS
Today, I took the Ice Bucket Challenge for ALS. I also made a donation to the ALS Association. I now extend the challenge to you! Do what you can to raise awareness and help efforts to find better treatments and a cure for ALS.
Influenza and Neuromuscular Disease
Individuals with neuromuscular disease are considered to be at high risk for complications from influenza such as pneumonia or bronchitis, hospitalization, and more rarely, death. Make sure to talk to your physician about influenza and ask if you should receive vaccination against the flu.
Is Charcot Foot the Same as Charcot Marie Tooth?
Although Charcot Foot, also called Charcot’s arthropathy or neuroarthropathy, has some of the same symptoms as Charcot Marie Tooth, these two diseases have different causes. Careful diagnosis is required to receive the proper care for these two distinct diseases.
MDA Covered Diseases with Brief Description [offsite link]
The Muscular Dystrophy Association serves those with a variety of neuromuscular disease. This offsite list from the MDA gives a brief description of each of these diseases.
The mitochondrial myopathies are a group of genetic diseases that affect the mitochondria in the cells. These diseases are considered to be a neuromuscular disease, although this disease affects all the cells of the body.
Muscular Dystrophy Association (MDA) Home Page [offsite link]
Learn about the various diseases served by the MDA and about the services offered.
Muscular Dystrophy Association (MDA) Resources
Find out about the many services the Muscular Dystrophy Association provides to people with neuromuscular diseases.
My First Visit to a Neurologist
In retrospect, I learned a lot from my first visit to a neurologist about how to be better prepared for future visits to the neurologist and to other physicians that I would be referred to see.
Newborn Screening and Pompe Disease Update
Recently, the U.S. Discretionary Advisory Committee on Heritable Disorders in Newborns and Children recommended that Pompe disease be added to the Recommended Uniform Screening Panel.
Obstructive Sleep Apnea and Neuromuscular Disease
Weakened respiratory and upper airway muscles caused by neuromuscular disorder can cause insufficient breathing during sleep in both adults and children, leading to increased risk of obstructive sleep apnea (OSA). During obstructive sleep apnea, a person has reduced air flow or stops breathing.
Research Registries and Neuromuscular Disease
Enrolling in a registry specific to neuromuscular disease will help individuals to be informed about clinical research regarding a specific disease or condition. In turn, disease registries will also aid researchers looking for qualified individuals to participate in research protocols.
Roussy-Levy Syndrome, also known as hereditary areflexic dystasia, affects the peripheral nervous system. Distinctive characteristics of this variant of CMT include tremors (rhythmic shaking) in the hands and arms and unsteadiness of gait (gait ataxia).
Sleeping Disorders in Neuromuscular Disease
If you have a neuromuscular disease, getting a good night of sleep may be difficult. Some research has suggested that as many as 40% of those with neuromuscular disease suffer from a sleeping disorder. Learn about sleeping disorders in those with neuromuscular disease.
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