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Assignment 7: Genetics in Special Education: Progeria (Signs/Symptoms…
Assignment 7: Genetics in Special Education: Progeria
Signs/Symptoms
As newborns: usually appear normal
Baldness
Aged-looking skin
Pinched nose
Small face and jaw (compared to head size)
Also can have symptoms typically seen in older individuals (joint stiffness, hip dislocations, severe & progressive cardiovascular disease)
Within a year: growth rate slows and they begin to be much shorter and weigh much less than "typical"
Genetics
Caused by a tiny, point mutation in a single gene, known as lamin A (LMNA)
Parents and siblings are virtually never affected by disease
Mutation occurs in the sperm prior to conceptions
Most cases are caused by a substitution of a base pair in the LMNA gene
Mutation destabilize the cell's nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the cardiovascular and musculoskeletal systems.
Different mutations in the same LMNA gene have been shown to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy
Testing
Genetic testing is currently available
Testing assures parents that this disorder stems from a sporadic genetic mutation, therefore it is very unlikely future children would have this condition
Treatment
Currently no treatment or cure
Can live to an average age of 13- death usually caused by heart attack or stroke
