however there is a group of rare myopathies with distinct characteristics that affect predominantly distal muscles . they can be identified by the following features : autosomal pattern of genetic inheritance , early or late onset distal muscle atrophy , increased creatine kinase ( ck ) and abnormal muscle biopsy . the miyoshi myopathy may be distinct among the hereditary distal myopathies , first described in the medical literature in 1967 in japan by miyoshi et al . we describe a family of distal myopathy where the diagnostic clue towards the underlying diagnosis was pointed out by a physical examination finding of  calf heads on a trophy  sign . a 26-year - old male presented to us with progressive muscle weakness and wasting of 3 years duration with inability to run or climb stairs . he was born out of nonconsanginous marriage as first of the twins with normal development and no mental retardation . on examination there was symmetrical wasting of trapezius , sternocleidomastoid , supraspinatus , forearm muscles , hand and leg muscles ( distal > proximal ) with winging of scapula associated with symmetrical weakness of hand and leg muscles ( grade 44/5 power , distal > proximal ) . was present and gowers sign was positive [ figures 1a  d and 2a and b ] . the tendon reflexes were present and symmetric . waddling gait with difficulty in walking on tip toes iu / l ) , lactate dehydrogenase - 747 iu / l ( normal : 105333 the electromyography ( emg ) showed a myopathic pattern with muscle biopsy taken from the vastus lateralis revealing dystrophic changes and immunostaining showed evidence of normal staining pattern for dystrophin ( 1 , 2 , 3 ) , sarcaglycans ( a , b , g , d ) , dystroglycans and merosin , except for total absence of dysferlin . ( a ) deltoid sparing ; ( b ) scapular winging ; ( c ) wasting of calf muscles ; ( d ) wasting of hand muscles calf heads on a trophy sign . ( a ) posture adopted to look for the calf heads on a trophy sign ; ( b ) diagrammatic representation matches with the sign shown in 2(a ) patient with his twin sister with similar clinical appearance myopathies usually present proximal weakness with or without atrophy involving mainly pelvic and scapular muscles . however , there is a group of rare myopathies with different characteristics that affect especially distal muscles . they can be identified by the following features : autosomal dominant or autosomal recessive ( ar ) genetic inheritance , early or late onset distal muscle atrophy , increased ck and abnormal muscle biopsy findings . onset of the disease is in early adult life with weakness and atrophy of the leg muscles . difficulty in tiptoeing and climbing stairs is the initial symptom , with involvement of gastrocnemius and soleus muscles . there is a slowly progressive weakness and the proximal muscles may be involved late . calf heads on a trophy sign  is a specific clinical sign that is almost specific for miyoshy myopathy : first is a prominent deltoid muscle looking like a calf 's heads with the mouth at the muscle 's insertion and one of the several linear depressions appearing like a half - closed eye . second is a cordlike upper border of the trapezius muscle appearing like a horn on the calf 's heads . third is a prominent upper medial part of the infraspinatus muscle with sharply demarcated wasting of the lower and lateral part , looking like a downward directed ear of the calf . fourth is the spinous process of the scapula , which becomes prominent because of the wasted supraspinatus above it appearing like the upper border of the calf 's neck . these  calf heads  appeared prominent over the upper back because of the hollowing of the interscapular region . the emg shows a myopathic pattern and the muscle biopsy reveals dystrophic changes without the presence of rimmed vacuoles and absent dysferlin . it has been also described in usa , italy , spain , germany , the netherlands , africa and brazil . in japan its incidence is approximately 1 in 440,000 inhabitants . the ar pattern of inheritance in combination with the clinical features , emg , serum ck level and muscle biopsy in our patient were suggestive of miyoshi myopathy . muscle biopsy done in his twin sister was also suggestive of miyoshi myopathy . in both of them the onset was in young age , between 20 and 23 years . this progression has been described in miyoshi myopathy and it is the only distal myopathy that begins in the posterior part of the legs . the proximal lower limbs muscles may be involved after many years and the anterior tibial and the peroneal muscles are almost normal . the calf heads on a trophy sign was not visible in any patient with muscle disease other than miyoshi myopathy and thus appears to be highly specific . as the final diagnosis nowadays is made with immunohistochemical staining of muscle biopsy specimens and genetic studies , the calf heads on a trophy sign may be useful in directing patients to appropriate tests , thus minimizing the time and cost of diagnosis . recently it has been described that miyoshi myopathy is due to the absence or decrease of a protein in the muscle membrane called dysferlin . this protein of 273k da , made of 2080 amino acids might function in calcium mediated membrane fusion or trafficking . the limb girdle muscular dystrophy 2b ( lgmd 2b ) has the same dysferlin locus like miyoshi myopathy . meugfatt et al . described a new method to differentiate miyoshi myopathy from lgmd 2b . in miyoshi myopathy the technique would permit a less invasive , faster and cheaper diagnosis and allows to quantify dysferlin levels when new treatments would be tested . besides enzymatic increase , the emg also confirms myopathic pattern with brief lasting potential , with small amplitude and polyphasic potentials . the immunocytochemistry on muscle biopsy performed in our patient showed absence of dysferlin in muscle membrane . myopathic features with polyfocal regeneration and occasional necrosis - no inflammation and absence of rimmed vacuoles were observed in some fibres . the nonaka 's myopathy is a recessive autosomal disorder with the onset in young adults . this myopathy shows weakness in feet dorsiflexor muscles and toe extensors (  fallen feet  ) . the ck is high and on muscle biopsy there are rimmed vacuoles , focal myofibrillar destruction and autophagocytoses . welander 's distal myopathy , tibial muscular dystrophy ( udd 's ) , markesbery - griggs distal myopathy , laing 's distal myopathy are all dominantly inherited late onset distal myopathies . welander 's myopathy involves wrist and finger extensors where as others have anterior tibial involvement . in our case two siblings were affected without clinical involvement of parents . along with clinical features , high cpk level , myopathic emg we feel that in patients where the clinical possibility of a distal myopathy is strong , it is mandatory to perform genetic tests and muscle biopsy with immunohistochemical techniques , as is being stressed in our index case . calf heads on a trophy sign  is not visible in any patient with muscle disease other than miyoshi myopathy and thus appears to be highly specific . as the final diagnosis nowadays is made with immunohistochemical staining of muscle biopsy specimens and genetic studies , the calf heads on a trophy sign may be useful in directing patients to appropriate tests , thus minimizing the time and cost of diagnosis .
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 .