Congenital Fiber-Type Disproportion (CFTD) malady

Genetics Home Reference:²¹ Congenital fiber-type disproportion is a disorder that primarily affects skeletal muscles, which are muscles the body uses for movement. People with this disorder typically experience muscle weakness (myopathy) throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Affected people may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require extra support and use a detachable mask (noninvasive mechanical ventilation) to help them breathe at night, and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy).

MalaCards: Congenital Fiber-Type Disproportion, also known as congenital fiber type disproportion, is related to myopathy and respiratory failure, and has symptoms including areflexia/hyporeflexia, abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase and myopathy. An important gene associated with Congenital Fiber-Type Disproportion is TPM3 (tropomyosin 3), and among its related pathways are RhoA signaling pathway and DREAM Repression and Dynorphin Expression. The compounds (r)-(+)-blebbistatin and bts have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and eye, and related mouse phenotypes are skeleton and muscle.

NIH Rare Diseases:⁴² Congenital fiber type disproportion is a type of congenital myopathy. congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. early signs and symptoms of congenital fiber type disproportion include floppiness, limb and facial weakness, and breathing problems. it is a genetic disease caused by mutations in the acta1, sepn1, ryr1 or tpm3 genes. depending on the gene and mutation involved, congenital fiber type disproportion can be passed through families in an autosomal recessive, autosomal dominant, or x-linked manner. last updated: 9/5/2012

Wikipedia:⁶³ Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

Description from OMIM:⁴⁶ 255310,300580

GeneReviews summary for cftd

External Ids:

OMIM46 255310, 300580 ICD10 via Orphanet26 G71.2

SNOMED-CT via Orphanet57 240084007

Clinical features from OMIM:

255310,300580

Clinical synopsis from OMIM:

255310

Symptoms:

⁴⁸ (show all 8)

areflexia/hyporeflexia abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase myopathy repeat respiratory infections

hypotonia scoliosis autosomal recessive inheritance pectus excavatum

Search GEO for disease gene expression data for Congenital Fiber-Type Disproportion.