and contractures), or in adulthood (with weakness, Achilles tendon, or finger contractures). [rarediseases.info.nih.gov]

Very young children may have mild weakness and, in this age group, present ligament laxity rather than contractures. Some individuals have proximal weakness without apparent contractures and have been diagnosed as muscular dystrophy of waists. [pepsic.bvsalud.org]

After a follow-up of 39 months, the course can be considered slowly progressive as we observed a worsening of proximal muscle weakness (MRC 3 to 4) and the installation of mild distal weakness (MRC 4). [scielo.br]

One of the patients required a surgical procedure for equine correction. Retractions in toe flexion were also observed in another patient (DEMIR et al., 2002). [pepsic.bvsalud.org]

Many characteristics are common just like muscle disability and fatigue, contractures often in fingers, elbows, and ankles. [pepsic.bvsalud.org]

Composed of 10 items, subdivided into 4 items, with scores ranging from 0 to 3, having these items as a way to evaluate from the ability to handle the wheelchair to the ability to remain in orthostatism and cough. [pepsic.bvsalud.org]

However, the majority of patients have a severe involvement that includes scoliosis, failure to thrive, and early and severe respiratory impairment by the end of the first decade of life15. [scielo.br]

[…] phenotype more compatible with Bethlem myopathy. [scielo.br]

[…] of symptoms, even though a form of collagen type VI myopathy. [pepsic.bvsalud.org]

[…] associated only to Bethlem myopathy, with benign course and dominant inheritance. [bases.bireme.br]

Due to the disease's progression, most people with Bethlem myopathy over age 50 require mobility aids (such as a cane, crutches, or wheelchair) for outdoor mobility. [rarediseases.info.nih.gov]

: «Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37». Hum. Mol. Genet., 1996, 5, 7 : 1043-1046. [jmunozy.org]

It most often affects the fingers, wrists, elbows, and ankles.[1][2] Signs and symptoms may begin before birth (with decreased fetal movements), shortly after birth (with low muscle tone or torticollis), in early childhood (with delayed motor skills, [rarediseases.info.nih.gov]

His patient, currently aged 28, has also congenital torticollis, a finding that has been commonly described3. [scielo.br]

Affected babies may present hypotonia, deformities in the feet and congenital torticollis (in which it is noted in more than 50% of patients). However, congenital contractures tend to be resolved in the first years of life. [pepsic.bvsalud.org]

The disease is characterized by slowly progressive muscle weakness and joint stiffness (contractures ). [rarediseases.info.nih.gov]

After a follow-up of 39 months, the course can be considered slowly progressive as we observed a worsening of proximal muscle weakness (MRC 3 to 4) and the installation of mild distal weakness (MRC 4). [scielo.br]

The Bethlem myopathy is an autosomal dominant or recessive disorder characterized by proximal and axial progressive muscle weakness, with flexion finger contractures (TAGLIAVINI et al., 2014). [pepsic.bvsalud.org]

The disease is characterized by slowly progressive muscle weakness and joint stiffness (contractures ). [rarediseases.info.nih.gov]

: «Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24-31». Hum. Mol. [jmunozy.org]