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