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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 ...
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 ...
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]
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]
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 difficulties in standing up. [ 3]
Rigid spine syndrome. Rigid spine syndrome, also known as congenital muscular dystrophy with rigidity of the spine (CMARS), is a rare and often debilitating neuromuscular disorder. It is characterized by progressive muscle stiffness and rigidity, particularly in the spine, which can severely limit mobility and impact quality of life.
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 ]
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 ...