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We report a 7-year-old boy with progressive, early onset somatic and cranial muscle weakness associated with external ophthalmoplegia, facial weakness, type I fibre hypotrophy and myofibril degeneration. We separate this condition from congenital fibre type disproportion because of the facial
A case of total congenital external ophthalmoplegia associated with infantile spinal muscular atrophy is presented. In the first 29 months of life, ophthalmoplegia has remained complete. Ultrastructure of lateral rectus extraocular muscle indicates a neurogenic process as the basis of the
Possible clinicopathological relationship between vacuolar degeneration of cerebral white matter and clinical manifestation, especially of supranuclear ophthalmoparesis, both infrequent in amyotrophic lateral sclerosis (ALS) patients, was tested. Of 104 ALS sequential series, cases with vacuolar
We describe two patients with sporadic amyotrophic lateral sclerosis (ALS), who had developed progressive external ophthalmoplegia of a predominantly supranuclear type while they survived on respirators, and displayed histopathological abnormalities both typical and atypical of ALS. Patient 1 was a
A woman was noted to have chronic progressive external ophthalmoplegia, pigmentary degeneration of retina and third degree AV block. She was admitted to hospital because of syncopes and was successfully treated with a permanent pacemaker. Since 1958, 12 similar cases have been noted. Three of 7
Two patients aged 17 and 25 years with Kearns syndrome are described. This condition is characterized by the triad of chronic progressive external ophthalmoplegia, pigmentary degeneration of of the retina and cardiac conduction defects. A review of the literature reveals frequent association with
A report is given of a black family with a dominantly inherited, neuro-retinal degeneration associated with abnormally large mitochondria, in which the cristae are disoriented. The disease is characterised by progressive external ophthalmoplegia, clear-cut macular degeneration, cerebellar
A patient had distal muscular atrophy involving the upper and lower extremities, ptosis of the lid, and ophthalmoparesis and cataracts. Muscle histochemistry and electromyographic examination showed lower motor neuron involvement. This case is similar to others described in the literature and
Autosomal dominant olivopontocerebellar degeneration was diagnosed in a family of Scottish ancestry by clinical examination and autopsy. In addition to having progressive cerebellar ataxia, head titubation, and severe dysarthria, the patients are unable to initiate saccadic eye movements. Slow
OBJECTIVE
To describe the clinical features of and identify the disease-causing mutation in a large Utah family segregating a dominantly inherited syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia.
METHODS
Observational case series.
METHODS
Thirty individuals at risk
To date over 150 X linked mental retardation (XLMR) conditions have been documented. We describe a five generation South African family with XLMR, comprising 16 affected males and 10 carrier females. The clinical features common to the 16 males included profound mental retardation (100%), mutism
OBJECTIVE
To correct, after 28 years, the previously reported diagnosis of ophthalmoplegia in a patient with presumed childhood spinal muscular atrophy.
METHODS
Clinical follow-up, laboratory, electrophysiologic, and muscle biopsy data are provided.
RESULTS
The findings of clinical follow-up
BACKGROUND
Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterised by bilateral progressive ptosis and ophthalmoplegia. These ocular features can develop either in isolation or in association with other prominent neurological deficits (CPEO+).
Clinical and neuropathological data of a 50-year-old woman with an unusual multisystem degeneration are presented. Clinically the illness was characterized by progressive ataxia with ophthalmoplegia and multiple cranial nerve palsies. Neuropathological investigation showed a severe and selective
Twenty-three members of a 96-member family exhibited an autosomal dominant disorder which has not previously been described. This disorder involves progressive optic atrophy, abnormal electroretinography without retinal pigment changes, and progressive sensorineural hearing loss usually evident in