Chronic progressive external ophthalmoplegia
The ophthalmoplegia progressiva externa, chronic progressive external ophthalmoplegia as ( CPEO ), is a neuroophthalmological disease. Cause is usually a mitochondrial inherited disorder ( mitochondrial disease ) leading to an over the years slowly increasing paralysis of all the extraocular muscles and the Lidhebers ( levator palpebrae superioris ) leads. If the ophthalmoplegia progressiva externa accompanied by other symptoms, it is called the " ophthalmoplegia plus" ( " CPEO plus" ).
Clinical picture
The occurrence of this disease is possible at any age. The earlier the disease breaks out, the harder it is their history. Central clinical signs are the drooping of one or both eyelids (ptosis ), and a partly massive movement restriction of the eyes. Diplopia frequently do not occur because the paralysis is pronounced almost symmetrically on both eyes, and it therefore does not come to a squint. Also pain does not belong to this disease.
In contrast to central paralysis View all oculomotor brainstem functions such as saccades, Optokinetic and vestibulookuläre reflex are intact, but slows down because of the strong paralysis.
Ophthalmoplegia plus
In the " ophthalmoplegia plus" ( CPEOplus ) further muscular weaknesses come (especially in the proximal parts of the extremities, the face and the swallowing muscles), conduction disorders of the heart and endocrinopathies which manifest as diabetes mellitus, short stature or delayed puberty, before. It can also show up an axonal polyneuropathy, dementia, pigment retinopathy and ataxia. The transition to the Kearns -Sayre syndrome is fluid.
Etiology
In the " ophthalmoplegia plus" can be found in about 50 % of cases sporadic genetic disorders with singular, about 2-8 kb mtDNA deletions or very rare duplications. In rare cases, maternally inherited point mutations of mtDNA show (most often the mutation A3243G ). In addition, also occur autosomal modes of inheritance ( autosomal dominant CPEO / adPEO ), rare autosomal recessive cases in the context of nuclear gene mutations that lead to multiple mtDNA deletions.
Diagnostics
Besides the general in mitochondrial diseases recommended diagnostics such as creatine kinase, lactate dehydrogenase, resting lactate and pyruvate in the blood serum, a neurological examination status, the exclusion of a pathological lactate rise by ergometry and electromyography, and muscle biopsy and molecular genetic diagnostics, are used in the ophthalmoplegia progressiva externa additional thyroid hormone and antibody status and the electroneurography recommended. Nevertheless, the clinical signs of CPEO described above are already so characteristic that even without technical aids a relatively definite diagnosis is possible.
Differential diagnoses
Possible differential diagnoses of CPEO are myasthenia, view paralysis, third nerve palsy ( N.III palsy ), brain stem lesions ( there are not all kinds of eye movements equally affected ), senile ptosis or fibrosis syndrome.
Therapy
A cure of this disease is not possible. The ptosis may, however, be treated plastic surgery (such as a frontalis suspension with silicone). Surgical treatment of ptosis is advantageous because only a poor eyelid closure exists and could dry out the cornea ( exposure keratopathy ). If diplopia persists, a prism glasses or squint operation are possible solutions. Cardiac arrhythmias, a pacemaker may be an option.
In particular, in cases where a primary coenzyme Q10 deficiency could be detected, a therapeutic trial with 50 - 300 mg of coenzyme Q10 daily to discuss. The aim of the treatment, it is in this case to avoid the defects in the respiratory chain and thus to ensure maximum production of ATP. Study results without match: Reduced lactate levels but has no clinical relevance.
Furthermore, idebenone, riboflavin, creatine monohydrate and L- carnitine are used digital atlas.
Swell
- S1 guideline Mitochondrial diseases. In: AWMF online