title: Calf heads on a trophy sign: Miyoshi myopathy.
abstract: 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.
authors.affiliation: Department of Neurology, Goverment TD Medical College Alappuzha, Kerala, India.
authors.forename: M Mundayadan
authors.initials: MM
authors.lastname: Shyma
authors.affiliation: Department of Neurology, Goverment TD Medical College Alappuzha, Kerala, India.
authors.forename: P Sreedharan
authors.initials: PS
authors.lastname: Roopchand
authors.affiliation: Department of Neurology, Goverment TD Medical College Alappuzha, Kerala, India.
authors.forename: K Mohan
authors.initials: KM
authors.lastname: Ram
authors.affiliation: Department of Neurology, Goverment TD Medical College Alappuzha, Kerala, India.
authors.forename: C Velayudhan
authors.initials: CV
authors.lastname: Shaji
keywords: distal myopathy; familial miyoshi myopathy; “Calf heads on trophy” sign