A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress

Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.

Progress in the diagnosis and treatment of congenital fiber-type disproportion / 国际儿科学杂志

Congenital fiber-type disproportion (CFTD) is a rare form of congenital myopathy,characterized by non-progressive generalized muscle weakness from early childhood.Diagnosis depends on crucial histological abnormality that type 1 muscle fibers are consistently smaller than type 2 fibers in the absence of other specific histological abnormalities.Whether CFTD should be regarded as a distinct diagnostic entity has always been a controversial issue.Many pathogenic genes have been identified in recent years.This article reviews clinical manifestation,pathology,genetic diagnosis and treatment progress of CFTD.

A Case of Congenital Fiber Type Disproportion Associated with External Ophthalmoplegia

Congenital fiber type disproportion (CFTD) is a form of congenital myopathy characterized by histologic findings of the smallness of type 1 fiber and type 1 fiber predominance. It is usually associated with hypotonia and motor weakness of the limb muscles at birth or the neonatal period. We report a 6-year-old girl with limb weakness and ophthalmoplegia, whose muscle pathology showed the classic pattern of CFTD without any other abnormality.

Congenital Fiber Type Disproportion Myopathy: A case report

Authors report a typical case of congenital fiber type disproportion (CFTD) with unique clinicopathologic characteristics. The patient was a 13-year-old boy who presented with weakness of lower extremities, especially proximal muscle, since his infancy. He has suffered from severe scoliosis which got worse since the age of 12. He showed mild dysarthria, high arched palate, and fish face. All routine laboratory data were within normal limits. EMG findings suggested myopathy. The muscle biopsy revealed fiber type disproportion with type 1 predominance. While most of the type 1 myofibers were atrophic or normal in size, the type 2 fibers showed universal hypertrophy. The difference of mean diameter between the larger and the smaller fibers was 27.9%. The patient's clinicopathologic settings fulfilled the criteria of CFTD.