A rare case of congenital fibre type disproportion causing delayed motor milestones
نویسندگان
چکیده
منابع مشابه
A rare case of congenital fibre type disproportion causing delayed motor milestones.
A two year and four month old boy who was the second child of a non-consanguineous marriage was investigated for delayed motor mile stones and dysarthria. The patient had an uneventful antenatal history. He started walking at the age of two years. There was no progressive proximal muscle weakness. Examination showed long facies and a squint. Muscle tone in both upper and lower limbs was mildly ...
متن کاملCongenital fibre type disproportion myopathy
Nine children with congenital fibre type disproportion (CFTD) are described. Their muscle biopsies contained type 1 fibres which were smaller than the largest type 2 fibres by at least 13.5%. Attention is drawn to the variable natural history of this disorder which generally carries a good prognosis but may sometimes be associated with fatal respiratory problems. For important therapeutic, gene...
متن کاملCongenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases.
Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotonia, delayed motor milestones and dysmorphic facies. During the past 2 years we received 449 muscle biopsies, of which 4 cases were diagnosed as congenital fiber type disproportion (CFTD). In addition to CFTD, one case also had centronuclear features. Three of them were females and one was a male c...
متن کاملA syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.
Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, h...
متن کاملCongenital muscle fiber-type disproportion
Congenital muscle fiber-type disproportion is a condition that can be defined only in the muscle biopsy by 2 obligatory criteria of “disproportion”: (1) a massive type I myofiber predominance of 80% or more, and (2) myofibers of type I are uniformly smaller than normal for age by 2 standard deviations or more, but are not necessarily angular or rounded as in myofiber atrophy. Internal sarcolemm...
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ژورنال
عنوان ژورنال: Ceylon Medical Journal
سال: 2015
ISSN: 2386-1274,0009-0875
DOI: 10.4038/cmj.v60i1.7570