friedreich's ataxia
friedreich's ataxia pathology
-limited production of frataxin, leads to mitochondrial disfunction, affects NS and heart -causes a degenerative of nerve tissue in the spinal cord and peripheral nerves, impacting muscle control -spinal cord becomes thinner, loses some myelin sheath -cerebellum degenerates to a lesser extent
friedreich's ataxia symptoms
-range from muscle weakness, speech problems, heart disease
friedreich's ataxia s&s
1st to appear: gait ataxia, spreads to trunk/UE, loss of sensation in extremities, dysarthria, nystagmus, scoliosis
friedreich's ataxia definition
a rare, inherited disease that causes progressive damage to the NS
friedreich's ataxia genetic definition
autosomal recessive-affected person inherits 2 affected genes
friedreich's ataxia most common cause of death
heart disease
friedreich's ataxia management
no cure, symptom management, braces/surgery for scoliosis/foot deformities, PT, OT, ST, medication, pacemaker
friedreich's ataxia dx
physical exam, genetic testing (gene mutation on chromosome 9) -other tests too
friedreich's ataxia progression
varies, 10-20 yrs after symptoms appear-> wheelchair, later-> incapacitation, some people live into their 60s and 70s