Progressive External Ophthalmoplegia (PEO)
Progressive external ophthalmoplegia (PEO) is a disorder where the muscles that move your eyes and lift your eyelids slowly become weak over time. “Progressive” means it...
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Progressive external ophthalmoplegia (PEO) is a disorder where the muscles that move your eyes and lift your eyelids slowly become weak over time. “Progressive” means it...
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1 is a genetic disorder that mainly weakens the muscles that lift and move the eyes....
Autosomal dominant progressive external ophthalmoplegia (AD-PEO) is a rare, inherited eye-muscle disorder where the muscles that move the eyes slowly get weaker over many years. People...
Autosomal dominant preaxial polydactyly means a person is born with one or more extra digits on the preaxial side of a limb—the thumb side of the...
Autosomal dominant preaxial polydactyly–upper-back hypertrichosis syndrome is a very rare genetic condition. “Autosomal dominant” means a single changed copy of the gene region from either parent...
Autosomal dominant mitochondrial myopathy with exercise intolerance (AD-MMEI) is a genetic muscle disease where the “power stations” inside muscle cells—mitochondria—do not make energy well. Because of...
Autosomal Dominant Distal Axonal Motor Neuropathy–Myofibrillar Myopathy (AD dAMN–MFM) Syndrome is an inherited kidney disorder where the last part of the kidney tubule (the “distal” tubule)...
Autosomal Dominant Distal Axonal Motor Neuropathy–Myofibrillar Myopathy Syndrome is a genetic disorder that mainly affects motor nerves (the wires that make muscles move) and muscle fibers...
Hereditary spastic paraplegia type 9 (SPG9) is a rare, inherited nerve condition. It mainly affects the long nerve fibers that run from the brain to the...
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy (without contractures) is a rare inherited nerve–muscle condition. It mainly weakens the muscles of the thighs and hips...
DYNC1H1-related lower-extremity–predominant autosomal dominant proximal spinal muscular atrophy (often shortened to SMA-LED1 when it is caused by the DYNC1H1 gene) is a rare inherited nerve–muscle disease....
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy is a rare genetic nerve-and-muscle condition. It begins in infancy or childhood. It mainly weakens the “proximal” muscles...