Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody.
نویسندگان
چکیده
A 25-year-old man with chronically progressive ptosis and bilateral ophthalmoplegia displayed fatigability and fluctuation of ptosis, an abnormal single-fiber electromyogram, and a markedly elevated acetylcholine receptor antibody level. Yet a muscle biopsy showed clear evidence of a mitochondrial cytopathy, and the clinical features did not improve after treatment with prednisone. This case emphasizes the difficulty in differentiating mitochondrial cytopathy from myasthenia gravis and points out that elevated acetylcholine receptor antibody levels may occur in nonmyasthenic conditions.
منابع مشابه
A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report
BACKGROUND Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS. CASE PR...
متن کاملAn Unusual Presentation of Myasthenia Gravis
Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. It occurs more common in younger individuals. Late-onset MG is more frequent in elderly men and is often misdiagnosed. We present a case of an 80 year old male presented with ocular weakness ...
متن کاملMyasthenia gravis and other neuromuscular junction disorders.
Correspondence to: Dr Saiju Jacob, Department of Neurology, Queen Elizabeth Neurosciences Centre, University Hospitals of Birmingham, B15 2TH, UK; [email protected] Myasthenia gravis is the most common autoimmune disease affecting the neuromuscular junction and is characterised by painless fatigable muscle weakness. It is caused by autoantibodies against neuromuscular junction proteins, eithe...
متن کاملCongenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene
Congenital myasthenic syndromes (CMS) are rare and heterogeneous genetic diseases characterized by compromised neuromuscular transmission and clinical features of fatigable weakness; age at onset, presenting symptoms, distribution of weakness, and response to treatment differ depending on the underlying molecular defect. Mutations in one of the multiple genes, encoding proteins expressed at the...
متن کاملComplex neuromuscular disorder in a patient with chronic myeloid leukaemia.
We report a 44 year old man who developed external ophthalmoplegia and predominantly respiratory, truncal and bulbar weakness with brisk reflexes, histological evidence of an inflammatory myopathy and a high titre of acetylcholine receptor antibodies, one month after starting hydroxyurea and allopurinol for chronic myeloid leukaemia. The temporal relationship suggests a possible association bet...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
دوره 27 1 شماره
صفحات -
تاریخ انتشار 2007