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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 ...
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]
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 ...
Muscle–eye–brain (MEB) disease, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), [2] is a kind of rare congenital muscular dystrophy (CMD), largely characterized by hypotonia at birth. Patients have muscular dystrophy, central nervous system abnormalities and ocular abnormalities.
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.
Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905. [ 2]