chronic progressive external ophthalmoplegia
Introduction
Introduction to chronic progressive extraocular muscle paralysis Chronic progressive extraphthalal palsy (chronicprogressive external phthalmoplegia), also known as vonGraefe ocular myopathy, is a rare ocular dyskinesia disease. It is chronic, progressive, bilateral, and the sag begins to sag and gradually appears. Do not move. basic knowledge The proportion of illness: 0.006% Susceptible people: no special people Mode of infection: non-infectious Complications: speech disorders dysphagia
Cause
Chronic progressive extraocular muscle paralysis
(1) Causes of the disease
Chronic progressive extraocular muscle paralysis is characterized by progressive ptosis and restricted eye movement. The lesion may be in the muscle, nerve-muscle junction, peripheral nerve and cerebral nucleus. The causes are trauma, toxin, degeneration. Change, infectious agents, hereditary disorders and masses.
(two) pathogenesis
There are four kinds of theories about the pathogenesis of this disease:
1. Muscular Dystrophy Theory Fuchs first proposed that the disease is a type of muscular dystrophy. Since then, Silex, Sandier, SamualGartner and Edwin Billet, Kiloh and Nevin have reported the pathological changes of the extraocular muscles of the disease. Swollen and fatty degenerative changes, transverse lines disappear, fibrous tissue hyperplasia, it is different from neurogenic muscle atrophy, although the latter muscle fibers shrink, but still retain its original nature, the horizontal stripes do not disappear, so the muscle Source theory has been recognized by more scholars for more than 20 years.
2. Neuron degeneration theory Mobius and Saenger reported 23 cases, which is believed to be caused by neuron degeneration of eye movement, which belongs to nuclear palsy. Langden and CadwMader first obtained cases of autopsy, found eye movement, block The number of nerve cells in the three kinds of abductors was reduced and the cell size was different. Ledlowski also had a pathological examination in 1 case. It was found that the number of cells in the oculomotor, the trochlear, the nucleus was reduced, the cell shape was shrunk, and some cells were nuclear. To the periphery, the Nissl body is comminuted, the Perlia nucleus and the Edjnger-Westphal nucleus are normal, and the nerve fibers inside and outside the midbrain are normal. Therefore, it is advocated as a neurogenic disease and has been dominated by neurogenic theory.
3. Neuro-muscle degeneration theory has recently been found to be associated with cerebellum, cranial nerve symptoms, progressive extraocular muscle paralysis can be secondary to degeneration of the cerebral nucleus, and later atrophy and degeneration of extraocular muscle fibers, so there are clinical eyes The nomenclature or classification of ophthalmoplegia plus, Kearns-sayre syndrome, and "eye-cranial neuromuscular disease with uneven red fibers."
4. Metabolic Deficiency Theory It is currently believed that this disease is caused by congenital defects of muscle cell energy metabolism, but the specific link of metabolic disorder has not been determined. Recently, it has been observed by electron microscopy that there is excessive accumulation of calcium in the diseased muscle fibers. Abnormal calcium metabolism is a key link in the pathogenesis. In the early stage of the disease, before the diseased muscle cells have not undergone a clear morphological change, the permeability of the myocyte membrane is defective, resulting in the exudation of muscle enzyme cells. After a certain period of time, the muscle cells are destroyed. The thickness of muscle fibers is significantly different. The diseased fibers are irregularly scattered between normal muscle fibers, the transverse stripes disappear, there are vacuoles, glassy degeneration and connective tissue hyperplasia, resulting in decreased muscle elasticity and contractility, causing eye movement disorders.
Prevention
Chronic progressive extraocular muscle paralysis prevention
There is no effective preventive measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease.
Complication
Chronic progressive extraocular muscle paralysis complications Complications, speech disorders, difficulty swallowing
Swallowing and speech disorders may occur in the case of lesions involving the facial muscles and pharyngeal muscles.
Symptom
Chronic progressive extraocular muscle paralysis symptoms common symptoms ptosis slow growth
1. The ptosis of the upper eyelid is the first symptom, mostly bilateral symmetry, a few can also be asymmetrical or no ptosis or only one side of the ptosis.
2. About 1/4 of the affected muscles were affected by facial muscles, and 10% of cases involved muscles of the extremities and pharyngeal muscles.
3. There was no improvement in ptosis and eye movement limitation after experimental treatment with anticholinesterase.
Examine
Chronic progressive extraocular muscle paralysis
1. Serum CPK may increase in patients with ocular myophthalmopathy and oculopharyngeal myopathy.
2. Pathological examination can take the muscles of the extremities. For example, the extraocular muscles can be taken under the operation of the eye muscle. Under the light microscope, the muscle fibers can be of different sizes, the interstitial is enlarged, the residual nerve fibers are present in the muscle, and the abnormal mitochondria accumulation in the muscle fibers is examined by electron microscopy.
3. EMG examination The performance of EMG does not correspond to the limitation of eye movement, that is, it has a strong discharge phenomenon proportional to the limitation of eye movement when moving to the direction of the affected extraocular muscle. The greater the limitation of eye movement The stronger the discharge.
4. Forced rotation test Fix the eyeball with the fixed iliac crest on the limbus, pull the eyeball to the left, right and upper and lower, and the extension of the extraocular muscle is lost, with obvious resistance and poor rotation.
Diagnosis
Diagnosis and differentiation of chronic progressive extraocular muscle paralysis
Due to its slow onset and long course of disease, this disease should be asked in detail about the history of the disease, and it is very important to understand its pathogenesis and course of disease. According to the special clinical manifestations, EMG examination and response with anti-cholinesterase drugs are not difficult to diagnose.
Different from congenital ophthalmoplegia, it can be found that the disease does not progress, and the eye position is down.
