The glycogen in LD patients also has higher phosphate levels and is present in greater quantities. Diagnosis
Lafora Disease is diagnosed by conducting a series of tests by a neurologist, epileptologist (person who specializes in epilepsy), or geneticist. To confirm the diagnosis, an EEG, MRI, and genetic testing are needed. A biopsy may be necessary as well to detect and confirm the presence of Lafora bodies in the skin. Typically, if a patient comes to a doctor and has been having seizures, as patients with LD characteristically have, these are the standard screening tests. Epidemiology
All the reports that have been published on Lafora Disease have shown that the overall prevalence of the disease is about 4 cases per million individuals around the world. Due to Laforas disease (LD) being so rare, there have been very few case series documented. The prevalence of Lafora Disease varies throughout the world because of the differing customs of each country that it is present in. It is much more prevalent in countries that have higher cases of inbreeding. Usually, these locations are generally more isolated from the world at large. In the western countries the prevalence of Lafora Disease is much lower because of the greater city size and less isolated communities that would participate in inbreeding. Treatment
Unfortunately there is no cure for Lafora Disease with treatment being limited to controlling seizures through anti-epileptic and anti-convulsant medications. The treatment is usually based on the individuals specific symptoms and the severity of those symptoms.
Chromosome 14 is also known to cause particular symptoms such as skeletal abnormalities, intellectual disability, and joint contractures, among others.UPD has rarely been studied prospectively, with most reports focusing on either known conditions or incidental findings. It has been proposed that the incidence may not be as low as believed, rather it may be under-reported. All chromosomes
Genome wide UPD, also called uniparental diploidy, is when all chromosomes are inherited from one parent. Only in mosaic form can this phenomenon be compatible with life. As of 2017, there have only been 18 reported cases of genome wide UPD. History
The first clinical case of UPD was reported in 1988 and involved a girl with cystic fibrosis and short stature who carried two copies of maternal chromosome 7. Since 1991, out of the 47 possible disomies, 29 have been identified among individuals ascertained for medical reasons. This includes chromosomes 2, 5–11, 13–16, 21 and 22. See also
Aneuploidy

References
External links

"Uniparental disomy". Department of Medical Genetics, University of British Columbia. Archived from the original on 2002-06-17. {{cite web}}:  CS1 maint: unfit URL (link)
T. Liehr: Cases with uniparental disomy
UPD Animations: UPD AnimationsThis article incorporates public domain text from The U.S. National Library of Medicine