One symptom of the disorder is myotonia, a condition in which muscles have trouble relaxing after use (prolonged spasm). The spasms are not painful. Other symptoms may include muscle weakness, slurred speech, difficulties swallowing, constipation, or abnormal heart beat (arrhythmia).
Speech or swallowing are often affected in oculopharyngeal muscular dystrophy, inclusion-body myositis, myotonic muscular dystrophy (especially the severe, congenital form), other congenital muscular dystrophies, nemaline myopathy, myotubular myopathy, Friedreich's ataxia, the myasthenias, amyotrophic lateral sclerosis ...
Patients with muscular dystrophy are commonly afflicted with psychological disorders like depression, anxiety, cognitive deficits etc., which likely exacerbates disease progression and worsens the quality of life.
The following findings are red flags that indicate the need for an urgent referral to a neurologist: Tongue fasciculations. Loss of motor milestones. Creatine phosphokinase (CK) level higher than three times normal (however, children with some neuromuscular disorders have normal CK levels)
In fact, preliminary results of our recent survey of people with MD show that 249 out of 321 people (78%) reported at least some daily pain. Of these individuals, 25% rated their average pain as being “severe,” or greater than five points on a scale of one (no pain) to ten (most severe pain).
Muscular dystrophies are a group of muscle diseases caused by mutations in a person's genes. Over time, muscle weakness decreases mobility, making everyday tasks difficult.
Depending on the type, muscular dystrophy can affect your ability to move, walk and perform daily activities. It can also affect muscles that help your heart and lungs function. Some forms of muscular dystrophy are present at birth or develop during childhood. Other forms develop during adulthood.
Myotonic dystrophy is one of the most common types of muscular dystrophy, characterized by progressive muscle weakness that can affect many parts of the body, including the heart and lungs. Like other rare diseases, it can take years of going to many different doctors to get the right diagnosis.
DMD is a single-gene disorder that is selectively associated with decreased verbal span capacity, but not impaired recall.
While most people living with Duchenne have no issues with mental health, there are increased risks of delayed development, as well as learning and behavior issues, difficulties with social interactions, and issues with emotional adjustment.
Dysarthria is a speech disorder caused by muscle problems. It can make it hard to talk. People may have trouble understanding what you say. Speech-language pathologists, or SLPs, can help.
For instance, an enlarged tongue is frequently observed in Duchenne muscular dystrophy (DMD) while tongue atrophy is common in amyotrophic lateral sclerosis (ALS).
DM can cause mental fatigue, daytime sleepiness, forgetfulness, confusion or “brain fog”, all related to altered brain activity. However, there is some good news – the number of nerve cells in the brains of people with DM is nearly normal.
Dysarthria means difficulty speaking. It can be caused by brain damage or by brain changes occurring in some conditions affecting the nervous system, or related to ageing. It can affect people of all ages. If dysarthria occurs suddenly, call 999, it may be being caused by a stroke.
Duchenne muscular dystrophy is the most common type of muscular dystrophy. The life expectancy for this type is around the ages of 16 to the early 20s. Becker muscular dystrophy has a higher life expectancy, usually in the 30s.
By the late teens, DMD may also be characterized by additional potentially life-threatening complications including weakness and deterioration of the heart muscle (cardiomyopathy). Cardiomyopathy can result in impairment in the ability of the heart to pump blood, irregular heartbeats (arrhythmias), and heart failure.
DMD leads to loss of ambulation before adolescence and, without treatment, life expectancy does not reach beyond late teens [8]. The two most common causes of death in DMD are respiratory and cardiac failure [9,10,11].
What causes muscular dystrophy (MD)? Most cases of MD are caused by gene mutations (changes in the DNA sequence) that affect muscle proteins. The mutations are usually inherited, but in some cases they occur spontaneously. These spontaneous mutations can then be inherited by an affected person's offspring.
CMDs are a group of disorders that involve more than only muscles; other body structures including the brain, eyes, and heart may be affected.
Contents. The muscular dystrophies (MD) are a group of inherited genetic conditions that gradually cause the muscles to weaken, leading to an increasing level of disability. MD is a progressive condition, which means it gets worse over time.
Many individuals are able to walk until they are in their mid-30s or later, while others are unable to walk past their teens. Some affected individuals never need to use a wheelchair. As in Duchenne MD, muscle weakness in Becker MD is typically noticed first in the upper arms and shoulders, upper legs, and pelvis.
Muscular dystrophy (MD) is a group of rare diseases that cause muscles to weaken and deteriorate. MD affects the voluntary muscles that control movement in the arms, legs, and trunk. It also can affect involuntary muscles, such as the heart and respiratory muscles.
Duchenne MD (DMD)
DMD is the most common and severe form of MD among children, and it accounts for approximately half of MD cases. DMD occurs mostly in boys, usually between 3 and 5 years of age, and progresses rapidly.