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Bethlem Myopathy

BTHLM


Presentation

  • Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation.[ncbi.nlm.nih.gov]
Wheelchair Bound
  • Only 1 of the 13 individuals with cardiac involvement was wheelchair-bound. We found no evidence of cardiac changes in the patients with FSH dystrophy.[ncbi.nlm.nih.gov]
  • She had subsequent deterioration, and became wheelchair bound by 10 years of age. She had no history of cardiac or respiratory symptoms. Examination of the proband revealed normal intelligence, and facial and bulbar muscles were normal.[neurologyindia.com]
  • The progression is slow and the severity is variable: about half of patients are wheelchair bound after the fifth decade; respiratory failure may occur in late stages. Keywords Collagen VI Finger contractures References 1.[link.springer.com]
  • Half the patients are reported to attain wheelchair-bound state by fifth decade of life. The more severe forms of BM may develop respiratory insufficiency.[annalsofian.org]
Italian
  • Here we report the clinical description and the molecular characterization of the defect in a two-generation Italian family in which a Gly-- Arg substitution disrupts the triple helix structure of the alpha 3 chain of collagen type VI, an ubiquitous glycoprotein[ncbi.nlm.nih.gov]
  • A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an Italian family affected by Bethlem myopathy. Biochem Biophys Res Commun 1999;258:802-807. [ Links ] 12. Ferreira LG.[scielo.br]
  • A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an Italian family affected by Bethlem myopathy. Biochem Biophys Res Commun 1999 ; 258 : 802 –7.[doi.org]
Fishing
  • Locomotion analyzes showed hypoxia-response behavior in 9 mpf col6a1 mutant unseen in 3 mpf fish. These symptoms worsened with ageing as described in patients with collagen VI deficiency.[ncbi.nlm.nih.gov]
  • Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH. Genomics 1995 ; 29 : 801 –3. Weil D, Mattei MG, Passage E, N’Guyen VC, Pribula-Conway D, Mann K, Deutzmann R, Timpl R, Chu ML.[doi.org]
Slender Habitus
  • She had a thin slender habitus, with severe contractures at the shoulders, elbows, hips, knees, ankles, and spine. She had a rigid spine and there was distal hyperextensibility at the interphalangeal joints, wrist, and toes[neurologyindia.com]
Respiratory Abnormalities
  • MAIN OUTCOME MEASURES: Cardiac and respiratory abnormalities. RESULTS: Several cardiac abnormalities were found that were considered unrelated to the muscular disorder.[ncbi.nlm.nih.gov]
High Arched Palate
  • Both had high arched palate, follicular hyperkeratosis and proximal dominant quadriparesis with flexion contractures involving elbow, knee, and ankles with distal hyperextensibility of fingers.[annalsofian.org]
Left Ventricular Dysfunction
  • CONCLUSION: Bethlem myopathy may be associated with progressive left ventricular dysfunction during pregnancy and may require early delivery.[ncbi.nlm.nih.gov]
Positive Gower's Sign
  • Physical examination revealed moderate proximal weakness with positive Gowerssign and proximal joint contractures.[medicaljournals.se]
  • He had a waddling gait, a positive Gowers' sign, and he was barely able to run. Case 2 Patient D-05 from family D was examined at several stages between the age of 13 and 34 years.[brain.oxfordjournals.org]
Calf Hypertrophy
  • ., 1988 )] and calf hypertrophy [rare in Bethlem myopathy ( Somer et al., 1991 )], but these features are not obligatory in the kindreds with secondary laminin β1 deficiency.[brain.oxfordjournals.org]
  • . , 1988 )] and calf hypertrophy [rare in Bethlem myopathy ( Somer et al. , 1991 )], but these features are not obligatory in the kindreds with secondary laminin β1 deficiency.[academic.oup.com]
Lower Limb Muscle Weakness
  • At the age of 42, the neurological examination revealed proximal lower limb muscle weakness and contractures of fingers flexors muscles, positive Gowers manoeuvre and a waddling gait.[ncbi.nlm.nih.gov]
Prayer Sign
  • Patients present with delayed motor milestones, proximal limb-girdle muscle weakness, and joint contractures involving the elbows, ankles, and last four fingers (the “prayersign).[link.springer.com]
Gowers Sign
  • Early symptoms include Gower's sign ("climbing" up the thighs with the hands when rising from the floor) and tiptoe-walking caused by the beginning of contractures. Bethlem myopathy affects about 1 in 200,000 people.[en.wikipedia.org]
  • Hypotonia, facial weakness and Gowers' sign were absent and tendon reflexes were depressed.[brain.oxfordjournals.org]
Waddling Gait
  • At the age of 42, the neurological examination revealed proximal lower limb muscle weakness and contractures of fingers flexors muscles, positive Gowers manoeuvre and a waddling gait.[ncbi.nlm.nih.gov]
  • Individuals may first notice a problem when they begin to walk with a “waddlinggait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat or climbing stairs.[mda.org]
  • He had a waddling gait, a positive Gowers' sign, and he was barely able to run. Case 2 Patient D-05 from family D was examined at several stages between the age of 13 and 34 years.[brain.oxfordjournals.org]

Treatment

  • Management and treatment Treatment remains purely supportive. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Treatment - Bethlem myopathy Currently there are no treatments available for Bethlem Myopathy, except for Physical Therapy. The treatment for Bethlem myopathy is symptomatic and supportive.[checkorphan.org]
  • Treatment varies depending on each individual’s symptoms. Common treatments include physical therapy, stretching exercises, and splinting. Sometimes, surgery can be used to fix problems with the muscles or the tendons.[diseaseinfosearch.org]

Prognosis

  • Diagnosis - Bethlem myopathy Prognosis - Bethlem myopathy Bethlem myopathy is not expected to shorten a person's lifespan. People with Bethlem myopathy have symptoms that affect them for their whole lives, including progressive muscle weakness.[checkorphan.org]
  • Due to the patient’s obesity and disease process, prognosis to reach patient goals was fair. Interventions The initial treatment session included an assessment for an appropriate assistive device for ambulation.[omicsonline.org]
  • 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]
  • Although Bethlem myopathy and Ullrich CMD were defined long before their molecular basis was known, they remain useful for clarification of prognosis and management.[ncbi.nlm.nih.gov]

Etiology

  • Etiology Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes.[orpha.net]
  • CONCLUSIONS: The authors' studies widen the clinical spectrum of Bethlem myopathy and suggest collagen VI etiology should be investigated in dominant limb-girdle muscular dystrophy.[ncbi.nlm.nih.gov]

Epidemiology

  • Summary Epidemiology To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Although the correlation of Bethlem myopathy and keloids was not statistically significant, the possible connection between these two abnormalities raises the possibility of a common pathophysiological link involving collage VIA.[journals.lww.com]
  • The pathophysiology remains to be elucidated.[brain.oxfordjournals.org]

Prevention

  • Thus, deletions within the triple helical region of both the alpha1(VI) and alpha3(VI) chains can prevent intracellular dimer and tetramer assembly and secretion.[ncbi.nlm.nih.gov]
  • Symptoms - Bethlem myopathy Causes - Bethlem myopathy Prevention - Bethlem myopathy Not supplied. Diagnosis - Bethlem myopathy Prognosis - Bethlem myopathy Bethlem myopathy is not expected to shorten a person's lifespan.[checkorphan.org]
  • However, there are ways, described below, of helping to alleviate the effects of the condition and to prevent complications from occurring. What help can be offered? Physiotherapy is one of the main forms of help.[newcastle-hospitals.org.uk]
  • Physical therapy is effective to prevent joint contractures, promote walking, and provide patient education regarding mobility aids, splinting, and long-term effects of BMMD [ 3, 4, 7 ].[omicsonline.org]

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