Sensorimotor & autonomic neuropathy cardiomyopathy nephropathy CNS amyloidosis Progressive spastic paraparesis, dysarthria, & pseudobulbar palsy distal amyotrophy motor & cognitive delays Recurrent sudden onset of shoulder or upper arm pain & weakness ± sensory loss later atrophy of the upper extremity Recurrent attacks of bilateral & symmetric intense pain, redness, warmth, & swelling involving feet & (less frequently) hands
Hereditary Neuropathy with Liability to Pressure Palsies Hereditary neuropathy with liability to pressure palsiesĪcute onset of recurrent, painless, focal sensorimotor neuropathy in a single nerve
Mitochondrial DNA-Associated Leigh Syndrome and NARPĪnosmia & early-onset retinitis pigmentosa ± neuropathy, deafness, ataxia, &/or ichthyosis Neurogenic muscle weakness, ataxia, & retinitis pigmentosa May present w/sensory loss, depressed tendon reflexes, & high-arched feet
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, & cataract (PHARC) Progressive stiffness & weakness of legs, sphincter disturbances, sexual dysfunction, & often, impaired adrenocortical function
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