Calf heads on a trophy sign: Miyoshi myopathy
| Autor: | K Mohan Ram, P Sreedharan Roopchand, C Velayudhan Shaji, M Mundayadan Shyma |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Weakness
medicine.medical_specialty Case Report distal myopathy lcsh:RC321-571 “Calf heads on trophy” sign Dysferlin Atrophy Pathognomonic medicine Myopathy lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Muscle biopsy medicine.diagnostic_test biology familial miyoshi myopathy business.industry General Neuroscience Anatomy medicine.disease Surgery Distal Myopathies biology.protein Creatine kinase Neurology (clinical) medicine.symptom business |
| Zdroj: | Journal of Neurosciences in Rural Practice Journal of Neurosciences in Rural Practice, Vol 6, Iss 03, Pp 428-430 (2015) |
| ISSN: | 0976-3155 0976-3147 |
| DOI: | 10.4103/0976-3147.158798 |
| Popis: | Miyoshi myopathy is an autosomal recessive distal myopathy with predominant involvement of the posterior calf muscles attributed to mutations in the dysferlin gene. We report a 26-year-old male, born of nonconsanginous parentage. He noticed weakness and atrophy of leg muscles with inability to walk on his heels. The creatine kinase concentration was high. The electromyography showed myopathic pattern and the muscle biopsy disclosed dystrophic changes with absence of dysferlin. Miyoshi myopathy may be distinct among the hereditary distal myopathies. There are only few reported cases of Miyoshi myopathy in the world literature. In India only 12 cases were reported who had classical features of Miyoshi myopathy. Our’s is a typical case of Miyoshi myopathy, with an affected twin sister as well. He also had “calf heads on a trophy sign” on physical examination, which is considered to be pathognomonic of this disease. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|