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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 ...
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 ...
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]
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. [1] In DM, muscles are often unable to relax after contraction. [1] Other manifestations may include cataracts, intellectual disability and heart conduction problems.
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]
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a very rare genetic disorder which is characterized by congenital muscular dystrophy, infantile-onset cataract, and hypogonadism. Males usually develop Klinefelter syndrome while females develop agenesis of the ovaries. [2] It has been described in eight individuals of ...
Spinal muscular atrophy, or SMA, was the leading cause of genetic deaths in babies, but screenings and new treatments are now helping kids thrive. Spinal muscular atrophy, or SMA, was the leading ...
Congenital muscular dystrophies (CMDs) are autosomal recessively inherited, except in some cases of de novo gene mutation and Ullrich congenital muscular dystrophy. [ 8][ 9] This means that in most cases, both parents must be carriers of a CMD gene in order for it to be inherited. CMDs are heterogenous and thus far there have been 35 genes ...