Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.

Objective: To accurately categorize the phenotypes of individuals with collagen VI-related dystrophies (COL6-RDs) during the first years of life to predict long-term motor function and pulmonary function, to provide phenotype-specific anticipatory care, and to improve clinical trial readiness.

Methods: This retrospective, multicenter, international study analyzed the relationship of long-term motor and pulmonary function with the initial maximal motor ability achieved in individuals with COL6-RD.

Results: We studied 119 patients with COL6-RD from Spain (n = 54) and the United States (n = 65).

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability.

Mutations in human collagen VI genes cause a spectrum of musculoskeletal conditions in children and adults collectively termed collagen VI-related myopathies (COL6-RM) characterized by a varying degree of muscle weakness and joint contractures and which include Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM). Given that collagen VI is one of the most abundant extracellular matrix proteins in adipose tissue and its emerging role in energy metabolism we hypothesized that collagen VI deficiency might be associated with alterations in adipose tissue distribution and adipokines serum profile. We analyzed body composition by means of dual-energy X-ray absorptiometry in 30 pediatric and adult COL6-RM myopathy patients representing a range of severities (UCMD, intermediate-COL6-RM, and BM).

[Fractures in spinal muscular atrophy].

Aim: To determine the frequency of fractures in patients with spinal muscular atrophy, their mechanism of production, age at appearance and functional repercussions.

Patients And Methods: Sixty-five patients with spinal muscular atrophy were studied. Cases of fractures diagnosed by means of X-rays were collected and the following parameters were analysed: type of spinal muscular atrophy, gait, age at the time the fracture occurred, mechanism of production, location, treatment applied and functional repercussion.

[Hammersmith functional rating scale for children with spinal muscular atrophy. Validation of the Spanish version].

Aims: This study was conducted with the aim of developing the Spanish version of the Hammersmith functional rating scale for children with spinal muscular atrophy (SMA), to establish the interobserver reliability and to adapt it to Spanish children with SMA types II and III.

Patients And Methods: We assessed 31 children with a mean age of 4.7 years (range: 2.