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These symptoms include chorea, dystonia, and cognitive deficits which worsen with age. [2] [3] This disorder is autosomal dominant [4] and is caused by mutations in the gene encoding the light chain subunit of the ferritin protein. Wild type ferritin functions as a buffer for iron, sequestering it and controlling its release.
Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous muscle contraction causing abnormal posture. The prevalence of myoclonus dystonia has not been reported, however, this disorder falls under the umbrella of movement disorders which affect thousands worldwide. [ 1 ]
Due to the rare and variable nature of dystonia, research investigating the effectiveness of these treatments is limited. There is no gold standard for physiotherapy rehabilitation. [33] To date, focal cervical dystonia has received the most research attention; [31] however, study designs are poorly controlled and limited to small sample sizes ...
This autosomal-dominant condition is the most frequent cause of dopamine-responsive dystonia. [1] Mutations in the gene for tyrosine hydroxylase may lead to tyrosine hydroxylase deficiency, a rare form of dopamine-responsive dystonia inherited in an autosomal recessive manner. [2]
Oromandibular dystonia (OMD) is an uncommon focal neurological condition affecting the jaws, face, and mouth. [1] Oromandibular dystonia is characterized by involuntary spasms of the tongue, jaw, and mouth muscles that result in bruxism , or grinding of the teeth , and jaw closure.
The ferritin levels measured usually have a direct correlation with the total amount of iron stored in the body. However, ferritin levels may be artificially high in cases of anemia of chronic disease, where ferritin is elevated in its capacity as an inflammatory acute phase protein and not as a marker for iron overload. [citation needed]
The Mayo Clinic diet, a program that adheres to this notion, was developed by medical professionals based on scientific research, so you can trust that this program is based on science, and not ...
Schilder disease or diffuse myelinoclastic sclerosis: is a rare disease that presents clinically as a pseudotumoural demyelinating lesion; and is more common in children. [56] [57] Solitary sclerosis: This variant was proposed (2012) by Mayo Clinic researchers. [58] though it was also reported by other groups more or less at the same time.