Presentation
Some dermatological symptoms are present as follicular hyperkeratosis and tendency to form adherence in scars. [pepsic.bvsalud.org]
The present report intends to emphasize the wide spectrum of phenotypes that can be associated to collagen VI deficiency. [scielo.br]
OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. [bases.bireme.br]
Entire Body System
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Weakness
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]
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Surgical Procedure
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]
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Disability
Many characteristics are common just like muscle disability and fatigue, contractures often in fingers, elbows, and ankles. [pepsic.bvsalud.org]
Respiratoric
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Cough
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]
Gastrointestinal
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Failure to Thrive
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]
Musculoskeletal
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Myopathy
[…] 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]
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Torticollis
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]
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Muscle Weakness
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]
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Joint Stiffness
The disease is characterized by slowly progressive muscle weakness and joint stiffness (contractures ). [rarediseases.info.nih.gov]
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Muscular Atrophy
: «Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24-31». Hum. Mol. [jmunozy.org]
Treatment
Most cases are inherited in an autosomal dominant manner, but in rare cases the disease is autosomal recessive .[1][2] The diagnosis is based on clinical examination and laboratory tests, but genetic testing may confirm the diagnosis.[2] Treatment depends [rarediseases.info.nih.gov]
Its treatment is based on motor and aquatic physiotherapy once a week, occupational therapy also once a week and supraloral orthosis associated with extensor splint alternately, but it is difficult to adhere. [pepsic.bvsalud.org]
Prognosis
COL6A3 genes, encoding respectively the alpha 1, alpha 2 and alpha 3 chains of collagen VI, and show clinical and genetic heterogeneity; therefore mutation detection in essential in these disorders for allowing the correct diagnosis, the establishment of prognosis [scielo.br]
Pathophysiology
Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. Journal of Proteome Research, v. 13, n. 11, p. 5022-5030, Sept. 2014. doi: 10.1021/pr500675e [ Links ] PARK, Y. et al. [pepsic.bvsalud.org]
Prevention
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. J Biol Chem 1999;274:21817-21822. [ Links ] 11. Pepe G, Giusti B, Bertini E, et al. [scielo.br]