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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.
Legislative Advocacy and Neuromuscular Disease
Lately, I have become increasingly involved in legislative advocacy. These efforts regularly involve writing to my elected officials to raise awareness regarding issues such as research funding and legislation regarding quality of life issues for those with neuromuscular disease.
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.
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.
Translational Research and Neuromuscular Disease
Translational research into neuromuscular disease focuses on taking basic research advances and ‘translating’ these results into usable therapies. Researchers are increasingly finding applications for basic research to the diagnosis, progression, and treatment of neuromuscular disease.
Contractures and Neuromuscular Disease
Contractures occur in the joints of many individuals with neuromuscular disease. These include muscular dystrophy, myopothy, Charcot Marie Tooth, ALS, and Friedrich’s ataxia. Contractures cause deformity in the affected joint, often leading to pain and functional difficulties.
Suzanne Andrews Functional Fitness DVDs Review
The Functional Fitness DVD series, created by occupational therapist Suzanne Andrews, provides a series of videos aimed at increasing functional fitness for those experiencing health issues. For purposes of this review, her Arthritis and Pain Free Back & Neck DVDs were sampled.
“It’s Not Fair!” – Coping Spiritually
No, life is not fair: however, the more I focus on what I perceive others have that I do not have , the more unhappy and envious I become. I could easily allow myself to lose my joy. My antidote comes from focusing on prayer and gratitude to God, most often through my journaling.
39 Pounds of Love Documentary Review
The Documentary 39 Pounds of Love provides viewers a rare glimpse at a life well lived despite severe disability. This documentary follows the cross-country travels of Ami Ankilewitz, a 34 year old man with a rare form of the neuromuscular disease SMA/2 (spinal muscular atrophy).
What is Functional Fitness Training?
Functional fitness can help individuals with neuromuscular disease strengthen the muscles that they need to perform everyday activities. This can lead to improved balance, reduced injuries, and an improved quality of life.
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