Early Predictors of Poor Outcome in Congenital Fiber-Type Disproportion Myopathy

Congenital Myopathies in Israeli Families

“…A positive correlation between facial weakness and a severe phenotype has been noted in congenital fiber type disproportion patients. 16,17 We found a similar positive correlation between facial weakness and the severe phenotype in our congenital myopathies cohort (P = .017). A trend toward a positive correlation was also found between onset at birth and a severe phenotype.…”

“…This finding is consistent with the diagnosis of myotubular myopathy, which includes 2 main forms: the "X-linked myotubular myopathy" characterized by a severe phenotype and the "centronuclear myopathy" characterized by a milder phenotype. 5 All boys were of Jewish origin, and 6 presented with severe hypotonia in the neonatal period requiring early ventilatory support (patients [14][15][16][17][18][19]. All 6 had facial weakness, 2 had contractures in the upper and lower limbs, and 5 died before 2 months of age.…”

Congenital Myopathies in Israeli Families

“…A positive correlation between facial weakness and a severe phenotype has been noted in congenital fiber type disproportion patients. 16,17 We found a similar positive correlation between facial weakness and the severe phenotype in our congenital myopathies cohort (P = .017). A trend toward a positive correlation was also found between onset at birth and a severe phenotype.…”

“…This finding is consistent with the diagnosis of myotubular myopathy, which includes 2 main forms: the "X-linked myotubular myopathy" characterized by a severe phenotype and the "centronuclear myopathy" characterized by a milder phenotype. 5 All boys were of Jewish origin, and 6 presented with severe hypotonia in the neonatal period requiring early ventilatory support (patients [14][15][16][17][18][19]. All 6 had facial weakness, 2 had contractures in the upper and lower limbs, and 5 died before 2 months of age.…”

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

“…Worsening of the symptoms with pregnancy, reported by female patients of the present family, may also occur in other neuromuscular disorders (Rossi et al, 1985;Rudnik-Schoneborn et al, 1997;Chaudhry et al, 2002). Although CFTD generally carries a benign prognosis, the natural history of this myopathy is variable and weakness may be severe in up to 25% of patients, with recurrent respiratory failure and early death (De Reuck et al, 1977;Carboni et al, 1981;Mizuno and Komiya, 1990;Torres and Moxley, 1992;Clarke and North, 2003). Associated defects common in CFTD were absent in our family, such as a high-arched palate, short stature, hip dislocation, scoliosis, joint laxity, joint contractures and pes cavus.…”

Cardiac Manifestations of Congenital Fiber-Type Disproportion Myopathy

“…The weakness is usually not progressive, but can be associated with feeding difficulty, respiratory compromise, and delayed acquisition of motor milestones. [3][4][5] Findings in cases of congenital fibertype disproportion can also include ophthalmoplegia with associated ptosis5-8 and skeletal abnormalities, including contractures, scoliosis, and foot deformities. ~5 We describe two patients with congenital fiber-type disproportion who exhibited symptomatic cardiac disease, suggesting the need for cardiac assessment and monitoring in children with congenital fiber-type disproportion.…”

Congenital Myopathies in Israeli Families

“…A positive correlation between facial weakness and a severe phenotype has been noted in congenital fiber type disproportion patients. 16,17 We found a similar positive correlation between facial weakness and the severe phenotype in our congenital myopathies cohort (P = .017). A trend toward a positive correlation was also found between onset at birth and a severe phenotype.…”

“…This finding is consistent with the diagnosis of myotubular myopathy, which includes 2 main forms: the "X-linked myotubular myopathy" characterized by a severe phenotype and the "centronuclear myopathy" characterized by a milder phenotype. 5 All boys were of Jewish origin, and 6 presented with severe hypotonia in the neonatal period requiring early ventilatory support (patients [14][15][16][17][18][19]. All 6 had facial weakness, 2 had contractures in the upper and lower limbs, and 5 died before 2 months of age.…”

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

“…Worsening of the symptoms with pregnancy, reported by female patients of the present family, may also occur in other neuromuscular disorders (Rossi et al, 1985;Rudnik-Schoneborn et al, 1997;Chaudhry et al, 2002). Although CFTD generally carries a benign prognosis, the natural history of this myopathy is variable and weakness may be severe in up to 25% of patients, with recurrent respiratory failure and early death (De Reuck et al, 1977;Carboni et al, 1981;Mizuno and Komiya, 1990;Torres and Moxley, 1992;Clarke and North, 2003). Associated defects common in CFTD were absent in our family, such as a high-arched palate, short stature, hip dislocation, scoliosis, joint laxity, joint contractures and pes cavus.…”

Cardiac Manifestations of Congenital Fiber-Type Disproportion Myopathy

“…The weakness is usually not progressive, but can be associated with feeding difficulty, respiratory compromise, and delayed acquisition of motor milestones. [3][4][5] Findings in cases of congenital fibertype disproportion can also include ophthalmoplegia with associated ptosis5-8 and skeletal abnormalities, including contractures, scoliosis, and foot deformities. ~5 We describe two patients with congenital fiber-type disproportion who exhibited symptomatic cardiac disease, suggesting the need for cardiac assessment and monitoring in children with congenital fiber-type disproportion.…”

Congenital Myopathies in Israeli Families

“…A positive correlation between facial weakness and a severe phenotype has been noted in congenital fiber type disproportion patients. 16,17 We found a similar positive correlation between facial weakness and the severe phenotype in our congenital myopathies cohort (P = .017). A trend toward a positive correlation was also found between onset at birth and a severe phenotype.…”

“…This finding is consistent with the diagnosis of myotubular myopathy, which includes 2 main forms: the "X-linked myotubular myopathy" characterized by a severe phenotype and the "centronuclear myopathy" characterized by a milder phenotype. 5 All boys were of Jewish origin, and 6 presented with severe hypotonia in the neonatal period requiring early ventilatory support (patients [14][15][16][17][18][19]. All 6 had facial weakness, 2 had contractures in the upper and lower limbs, and 5 died before 2 months of age.…”

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

“…Worsening of the symptoms with pregnancy, reported by female patients of the present family, may also occur in other neuromuscular disorders (Rossi et al, 1985;Rudnik-Schoneborn et al, 1997;Chaudhry et al, 2002). Although CFTD generally carries a benign prognosis, the natural history of this myopathy is variable and weakness may be severe in up to 25% of patients, with recurrent respiratory failure and early death (De Reuck et al, 1977;Carboni et al, 1981;Mizuno and Komiya, 1990;Torres and Moxley, 1992;Clarke and North, 2003). Associated defects common in CFTD were absent in our family, such as a high-arched palate, short stature, hip dislocation, scoliosis, joint laxity, joint contractures and pes cavus.…”

Cardiac Manifestations of Congenital Fiber-Type Disproportion Myopathy

“…The weakness is usually not progressive, but can be associated with feeding difficulty, respiratory compromise, and delayed acquisition of motor milestones. [3][4][5] Findings in cases of congenital fibertype disproportion can also include ophthalmoplegia with associated ptosis5-8 and skeletal abnormalities, including contractures, scoliosis, and foot deformities. ~5 We describe two patients with congenital fiber-type disproportion who exhibited symptomatic cardiac disease, suggesting the need for cardiac assessment and monitoring in children with congenital fiber-type disproportion.…”