Search results
Results from the WOW.Com Content Network
Muscular dystrophies ( MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. [ 1] The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. [ 1]
Bethlem myopathy is a slowly progressive muscle disease characterized predominantly by contractures, rigidity of the spine, skin abnormalities and proximal muscle weakness. [ 5][ 11] Symptoms may present as early as infancy, with typical contractures and hyperlaxity of joints; however, in some patients, symptoms may go unnoticed until ...
In females, 1 in 50,000,000 [ 5] Duchenne muscular dystrophy ( DMD) is a severe type of muscular dystrophy predominantly affecting boys. [ 3][ 6][ 7] The onset of muscle weakness typically begins around age four, with rapid progression. [ 2] Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, [ 3] which can lead to ...
Gowers's sign. Gowers's sign is a medical sign that indicates weakness of the proximal muscles, namely those of the lower limb. The sign describes a patient that has to use their hands and arms to "walk" up their own body from a squatting position due to lack of hip and thigh muscle strength. It is named after William Richard Gowers. [ 1][ 2]
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [ 3 ] [ 4 ] [ 5 ] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [ 6 ]
The goal of physical and occupational therapy in Duchenne muscular dystrophy is to obtain a clear understanding of the individual, of their social circumstances and of their environment in order to develop a treatment plan that will improve their quality of life. [ 1] Individuals with DMD often experience difficulties in areas of self-care ...
DM1 is the most common form of myotonic muscular dystrophy diagnosed in children, with a prevalence ranging from 1 per 100,000 in Japan to 3–15 per 100,000 in Europe. [13] The prevalence may be as high as 1 in 500 in regions such as Quebec, possibly due to the founder effect. The incidence of congenital myotonic dystrophy is thought to be ...
Diagnostic method. Physical exam, Medical history [ 3] Medication. Physical therapy, Surgery (scoliosis) [ 3] Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2. [ 4] UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type ...