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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 ...
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]
Kocher–Debré–Semelaigne syndrome; Other names: Debré–Semelaigne syndrome, cretinism-muscular hypertrophy, hypothyroidism-large muscle syndrome, hypothyreotic muscular hypertrophy in children, infantile myxoedema-muscular hypertrophy, myopathy-myxoedema syndrome, myxoedema-muscular hypertrophy syndrome, myxoedema-myotonic dystrophy syndrome, muscular pseudohypertrophy-hypothyroidism ...
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 ...
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 ...
Arrhythmogenic cardiomyopathy ( ACM) is an inherited heart disease. [ 1] ACM is caused by genetic defects of parts of the cardiac muscle known as desmosomes, areas on the surface of muscle cells which link them together. The desmosomes are composed of several proteins, and many of those proteins can have harmful mutations .
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]
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