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Ophthalmology. Chronic progressive external ophthalmoplegia ( CPEO) is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. [ 1] It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis. In other people suffering from mitochondrial disease ...
Kearns–Sayre syndrome ( KSS), oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder with ragged red fibers is a mitochondrial myopathy with a typical onset before 20 years of age. KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia (abbreviated CPEO), a syndrome that is characterized by ...
Genetic. Diagnostic method. Slit lamp. Treatment. None. Stargardt disease is the most common inherited single-gene retinal disease. [ 1] In terms of the first description of the disease, [ 2] it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1).
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. It is called multifocal because it can appear in different parts of the body, primarily bones, and osteomyelitis because it is very similar to that disease, although CRMO appears to be without any infection .
Progressive bulbar palsy ( PBP) is a medical condition. It belongs to a group of disorders known as motor neuron diseases. [ 1] PBP is a disease that attacks the nerves supplying the bulbar muscles. These disorders are characterized by the degeneration of motor neurons in the cerebral cortex, spinal cord, brain stem, and pyramidal tracts.
Frequency. 6 per 100,000. Progressive supranuclear palsy ( PSP) is a late-onset neurodegenerative disease involving the gradual deterioration and death of specific volumes of the brain. [2] [3] The condition leads to symptoms including loss of balance, slowing of movement, difficulty moving the eyes, and cognitive impairment. [2]
Brittle-cornea syndrome is characterized by the progressive thinning of the cornea, early-onset progressive keratoglobus or keratoconus, nearsightedness, hearing loss, and blue sclerae. [5] [36] Classic symptoms, such as hypermobile joints and hyperelastic skin, are also seen often. [37] It has two types. Type 1 occurs due to variations in the ...
12 per 100,000 people per year [ 4] Idiopathic pulmonary fibrosis ( IPF) synonymous with cryptogenic fibrosing alveolitis[ 5] is a rare, progressive illness of the respiratory system, characterized by the thickening and stiffening of lung tissue, associated with the formation of scar tissue. It is a type of chronic pulmonary fibrosis ...