Myotonic Dystrophy

What is Myotonic Dystrophy?

Myotonic dystrophy is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. What is the Pathology of Myotonic Dystrophy? The pathology of myotonic dystrophy is: -Etiology: The microsatellite expansion responsible for DM1…
Huntington’s Disease

What is Huntington’s Disease?

Hunington’s disease is neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. What is the Pathology of Huntington’s Disease? The pathology of Hunington’s disease is: -Etiology: The cause of Huntington’s disease…
Fragile X Tremor Ataxia

What is Fragile X Tremor Ataxia?

Fragile X tremor ataxia is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over 50 years old. What is the Pathology of Fragile X Tremor Ataxia? The pathology of Fragile X tremor…
Fragile X syndrome

What is Fragile X syndrome?

Fragile X syndrome is a genetic disorder characterized by mild-to-moderate intellectual disability. What is the Pathology of Fragile X Syndrome? The pathology of Fragile X syndrome is: -Etiology: The cause of Fragile X syndrome is a mutation of the fragile…
Trinucleotide-Repeat Disorders

What are Trinucleotide-Repeat Disorders?

Trinucleotide-repeat disorders are disorders caused by trinucleotide repeat expansion. Examples of trinucleotide-repeat disorders include: Fragile X syndromeFragile X tremor ataxiaHunington’s diseaseMyotonic dystrophySpinobulbar muscular atrophySpinocerebellar ataxiaDentatorubral-pallidoluysian atrophy
Chromosomal Disorders

What Are Chromosomal Disorders?

DiseaseGenetic IssueClinical FeaturesKlinefelter syndromeX extra chromosomeInfertility and small, poorly functioning testicles.Pure gonadal dysgenesisNone.Impaired development of the gonads.XYY maleExtra Y chromosome (47XYY)Taller than average height, low muscle tone, or muscle weakness, clinodactyly, widely spaced eyes, behavioral disorders.XXX femaleExtra X chromosome (47XXX)Learning…
Pseudohermaphroditism

What is Pseudohermaphroditism?

Pseudohermaphroditism is a condition in which an individual has a matching chromosomal and gonadal tissue (ovary or testis) sex, but mismatching external genitalia. What is the Pathology of Pseudohermaphroditism? The pathology of pseudohermaphroditism is: -Etiology: The causes of pseudohermaphroditism are…
Hermaphroditism

What is Hermaphroditism?

Hermaphroditism is an intersex condition in which an individual is born with both ovarian and testicular tissue. What is the Pathology of Hermaphroditism? The pathology of Hermaphroditism is: -Etiology: The causes of Hermaphroditism are different types of gonads. -Genes involved:…
Turner Syndrome

What is Turner Syndrome?

Turner syndrome is a genetic condition in which a female is partially or completely missing an X chromosome. What is the Pathology of Turner Syndrome? The pathology of Turner syndrome is: -Etiology: The cause of Turner syndrome is absence of…
Klinefelter Syndrome

What is Klinefelter Syndrome?

Klinefelter syndrome is a group of chromosomal disorders in which there is at least one extra X chromosome compared with the normal 46,XY male karyotype. What is the Pathology of Klinefelter Syndrome? The pathology of Klinefelter syndrome is:  -Etiology: The…