CYTOGENETIC DISORDERS involving mutations in mitochondrial genes Flashcards
This condition is characterized by vision loss.
Leber’s Hereditary Optic Neuropathy
This is the only symptom of LHON
Vision loss
To which does these belong?
o Blurring and clouding of vision
o Severe loss of visual acuity (sharpness of vision)
o Loss of ability to complete visual tasks
0 A growing, dense central scotoma (blind spot)
o Development of optic atrophy
LHON
This is a genetic disorder that results in a number of physical, mental and behavioral problems.
Prader-Willi Syndrome
What is the cause of Prader-Willi Syndrome?
Defect on Chromosome 15
Poor muscle tone, Distinct facial features, Poor sucking reflex, Generally poor responsiveness, Underdeveloped genitals
S&S of Prader-Willi Syndrome in Infants
Food craving and weight gain, Underdeveloped sex organs, Poor growth and physical development, Cognitive impairment, Delayed motor development, Speech problems, Behavioral problems, Sleep disorders.
S&S of Prader-Willi Syndrome in Early childhood to adulthood
This condition is a rare and neurological disorder characterized by severe developmental delay
and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling.
Angelman’s Syndrome
This is AKA as inability to coordinate
voluntary movements
Ataxia
To which does these S&S belong?
o Ataxia
o hold their arms up with the wrists and
elbows bent and may flap their hands
repeatedly when walking or excited
o hypotonia of the trunk
o hypertonia of the arms and legs
o hyperreflexia
o unprovoked, prolonged laughter and
smiling
o easily excited, hypermotoric and hyperactive
Angelman’s Syndrome
