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Newborn Screening and Neuromuscular Disease
As diagnosis and treatment protocols become more advanced, newborn screening will likely become increasingly possible for neuromuscular disease. As these advances are made, ethical and practical decisions regarding newborn screening for neuromuscular disease will need to be made.
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.
Newborn Screening Saves Lives Reauthorization Act
The Newborn Screening Saves Lives Reauthorization Act (H.R. 1281/S. 1417) was recently passed into law. This Act reauthorizes federal programs related to newborn screening.
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.
Obtaining a Handicapped Parking Permit
This year when I asked about receiving a handicapped parking permit, I received paperwork for a permanent placard. Find out more about who qualifies for a handicapped parking permit and how to obtain one if you do.
Online College and Neuromuscular Disease
The availability of online learning courses for college students has greatly increased in the past decade. Online learning can provide easily accessible college education for students with neuromuscular disease and other types of disability.
Performance Anxiety and Advocacy
Increasingly, I have opportunitites to speak to others about neuromuscular disease. I sometimes experience performance anxiety before or during my speaking, but have been learning to manage my stage fright.
Pes Cavus and Neuromuscular Disease
Pes cavus, also called high foot arch or high instep, refers to an abnormally high arch and shortening in the foot. Pes cavus, caused by muscle imbalance, often occurs in individuals with Charcot Marie Tooth (CMT) and Friedrich’s Ataxia (FA), and less frequently in other neuromuscular diseases.
Pes Planus and Neuromuscular Disease
Pes planus (flat foot, fallen arch) refers to an abnormally flattened arch. When standing, the entire foot will touch the floor. Pes planus is sometimes observed in individuals with Charcot Marie Tooth (CMT) and other neuromuscular diseases, but not as often as pes cavus (high arch) is observed.
Physical Therapy and Neuromuscular Disease
Physical therapy can be useful for many with neuromuscular disease in maintaining physical functioning as much as possible, leading to improved quality of life. Those interested should consult with their physician to determine if physical therapy would be beneficial.
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