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Myotonic dystrophy (DM) is a genetic condition that is inherited in an autosomal dominant pattern, meaning each child of an affected individual has a 50% chance of inheriting the disease. The mutation involves satellite DNA , which is tandemly repeated sequences of DNA that do not code for a protein.
The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting. Clinical symptoms become evident when the child begins walking. By age 10, the child may need braces and by age 12, most patients are unable to walk. [15]
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. [3] [7] [8] 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]
[12] [13] However, symptoms unique to MEB include glaucoma, atrophy of the optic nerves, and retinal generation. [9] The least severe phenotype of dystroglycanopathies is CMD type 1c (MDC1C), caused by mutations in the FKRP and the LARGE gene, with a phenotype similar to MEB and WWS. [15] MDC1C also includes Limb-Girdle muscular dystrophy. [12 ...
Multiple sulfatase deficiency (MSD), also known as Austin disease, [1] or mucosulfatidosis, [1] is a very rare autosomal recessive [2] lysosomal storage disease [3] caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases.
The gene affected is the DMD gene, is located on the X chromosome and is inherited in an X-linked recessive pattern. [13] Since women have two X chromosomes, if one X chromosome has the non-working gene, the second X chromosome will have a working copy of the gene to compensate, because of this ability to compensate, women rarely develop symptoms.
Children with the juvenile form of MLD (onset between 3 and 10 years of age) usually begin with impaired school performance, mental deterioration, and dementia, then develop symptoms similar to the late infantile form but with slower progression. Age of death is variable, but normally within 10 to 15 years of symptom onset.
Most workplace MSD episodes involve multiple parts of the body. [35] MSDs are the most frequent health complaint by European, United States and Asian Pacific workers. [ 36 ] and the third leading reason for disability and early retirement in the U.S. [ 13 ] The incidence rate for MSDs among the working population in 2014 was 31.9 newly ...