Congenital fiber-type disproportion myopathy: A case study
نویسندگان
چکیده
منابع مشابه
Congenital 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 کاملComparison of Clinical Characteristics Between Congenital Fiber Type Disproportion Myopathy and Congenital Myopathy with Type 1 Fiber Predominance
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy. CFTD is characterized by non-progressive childhood neuromuscular disorders with a relatively good prognosis and type 1 fiber pr...
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...
متن کاملSevere insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy.
Congenital muscle fiber type disproportion myopathy (CFTDM) is a chronic, nonprogressive muscle disorder characterized by universal muscle hypotrophy and growth retardation. Histomorphometric examination of muscle shows a preponderance of smaller than normal type 1 fibers and overall fiber size heterogeneity. Concomitant endocrine dysfunctions have not been described. We report the findings of ...
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ژورنال
عنوان ژورنال: Medicina Universitaria
سال: 2015
ISSN: 1665-5796
DOI: 10.1016/j.rmu.2014.09.001