PRADER-WILLI SYNDROME

What is Prader-Willi Syndrome?

Prader-Willi syndrome is is a genetic disorder caused by a loss of function of specific genes on chromosome 15. What is the Pathology of Prader-Willi Syndrome? The pathology of Prader-Willi syndrome is: -Etiology: The cause of Prader-Willi syndrome is loss…
Defective Imprinting

What is Defective Imprinting?

Defective imprinting is deletion of the active allele with inactivated other allele by methylation. Examples of genomic imprinting include: Prader-Willi syndromeAngelman syndrome The prognosis of Angelman syndrome is fair. People with Angelman syndrome appear to have a reduced but near-normal…
Genomic Imprinting

What is Genomic Imprinting?

Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed in a parent-of-origin-specific manner. One gene copy of the gene is silenced by methylation, and the other copy of the gene is expressed.
Leber Hereditary Optic Neuropathy

What is Leber Hereditary Optic Neuropathy?

Leber hereditary optic neuropathy is s an inherited form of bilateral optic atrophy in which the primary etiological event is a mutation in the mitochondrial genome. What is the Pathology of Leber Hereditary Optic Neuropathy? The pathology of Leber hereditary…
MELAS

What is MELAS?

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) is a multisystem and progressive neurodegenerative disorder. What is the Pathology of MELAS? The pathology of MELAS is: -Etiology: The cause of MELAS is by mutations in mitochondrial DNA. -Genes involved: can…
Dentatorubral-Pallidoluysian Atrophy

What is Dentatorubral-Pallidoluysian Atrophy?

Dentatorubral-pallidoluysian atrophy is a rare autosomal dominant neurodegenerative disorder clinically characterized by various combinations of cerebellar ataxia, choreoathetosis, myoclonus, epilepsy, dementia, and psychiatric symptoms. What is the Pathology of Dentatorubral-Pallidoluysian Atrophy? The pathology of Dentatorubral-pallidoluysian atrophy is: -Etiology: The cause…
Spinocerebellar Ataxia

What is Spinocerebellar Ataxia?

Spinocerebellar ataxia is a genetically heterogeneous group of inherited progressive degenerative disorders, the clinical hallmark of which is loss of balance and coordination accompanied by slurred speech. What is the Pathology of Spinocerebellar Ataxia? The pathology of spinocerebellar ataxia is:…
Spinobulbar Muscular Atrophy

What is Spinobulbar Muscular Atrophy?

Spinobulbar muscular atrophy is a progressive debilitating neurodegenerative disorder that causes muscle cramps and progressive weakness. What is the Pathology of Spinobulbar Muscular Atrophy? The pathology of spinobulbar muscular atrophy is: -Etiology: The cause of spinobulbar muscular atrophy is expansion…