Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

Abstract

The natural history of scoliosis, respiratory function and walking ability in UCMD patients were characterised. Although the age of onset varied, scoliosis, as well as restrictive respiratory dysfunction, progressed rapidly within years, once they appeared.

Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s)

“…Prenatal movements might be reduced in fetuses with UCMD 19. Some patients have congenital hip dislocation, torticollis and transient kyphotic deformity 19 20.…”

“…Some patients have congenital hip dislocation, torticollis and transient kyphotic deformity 19 20. Multiple joint contractures may be evident at birth, affecting the elbows, knees, spine (kyphoscoliosis) and ankles.…”

“…Multiple joint contractures may be evident at birth, affecting the elbows, knees, spine (kyphoscoliosis) and ankles. Arthrogryposis multiplex are seen in 20.0% of patients 19. Some transient feeding difficulties or poor sucking might occur in the neonatal period 19 20…”

“…Patients with UCMD usually become able to sit independently with or without delay 19. The majority of patients with typical UCMD achieve the ability to walk by 2 years of age.…”

“…The majority of patients with typical UCMD achieve the ability to walk by 2 years of age. The age at independent ambulation is reported to be 1.7±0.8 and 1.7±0.5 years in English and Japanese natural history studies, respectively 19 20. This group is referred to as having ‘moderate progressive’ disease in the phenotypic stratification of early-onset collagen VI-related myopathy (figure 1A) 10 11.…”