Bethlem myopathy

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Classification according to ICD-10
G72.8 Other specified myopathies
ICD-10 online (WHO version 2019)

In the Bethlem myopathy is a rare muscle disorder that the group of congenital muscular dystrophies belongs. It is an autosomal - dominant inherited. The disease is characterized by a relatively mild course with proximal muscle weakness and distal joint contractures . The cause of the disease are mutations in one of 3 genes that code for collagen VI , a protein in the extracellular matrix . The disease is very rare. Fewer than 100 cases have been reported to date.

history

The first description of the disease comes from J. Bethlem and GK Wijngaarden and was carried out in 1976 on the basis of an examination of 3 families with a total of 28 patients. In a publication from 1988 about a large family with 33 affected patients, the term Bethlem myopathy was used. suggested for this clinical picture.

root cause

The cause of the disease are mutations in the genes that code for collagen VI. Collagen VI consists of 3 subunits that are encoded by 3 different genes: COL6A1 and COL6A2 on the long arm of chromosome 21 (21q22.3) and COL6A3 on the long arm of chromosome 2 (2q37). Mutations have been described for all 3 genes, both point mutations and splice mutations , which lead to the disease. The disease is inherited as an autosomal dominant trait. Collagen VI is a protein of the extracellular matrix that is important for the connections between cells ( cell-cell connection ).

Clinical picture and course

Bethlem myopathy is characterized by mild muscle weakness of the proximal extremity muscles. In addition, contractures occur, especially in the area of ​​the finger joints, but also in the area of ​​other joints. Bethlem myopathy is characterized by a relatively benign, slowly progressing course. On average, patients aged 25–40 are dependent on wheelchairs.

swell

  • F. Jerusalem, S. Zierz: Muscle Diseases . 3. Edition. Thieme-Verlag, 2003, ISBN 3-13-567803-2 , p. 127 ff.
  • AH Ropper, MA Samuels: Adam's and Victor's Principles of Neurology. 9th edition. McGraw-Hill Companies, ISBN 978-0-07-149992-7 , pp. 1374.

Individual evidence

  1. ↑ J. Bethlem, GK Wijngaarden: Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees. In: Brain. 1976 Mar; 99 (1), pp. 91-100. PMID 963533 .
  2. ↑ MD Mohire et al .: Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). In: Neurology . 1988 Apr; 38 (4), pp. 573-580. PMID 3352914 .
  3. ↑ Jöbsis et al .: Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. In: Nat Genet . 1996 Sep; 14 (1), pp. 113-115. PMID 8782832 .

further reading

  • NL Baker: Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol . 2007 Oct; 62 (4), pp. 390-405. PMID 7886299
  • D. Hicks et al: A refined diagnostic algorithm for Bethlem myopathy. Neurology. 2008 Apr 1; ​​70 (14), pp. 1192-1199. PMID 18378883
  • GJ Jobsis et al .: Bethlem myopathy: a slowly-progressive congenital muscular dystrophy with contractures . Brain. 1999 Apr; 122 (Pt 4), pp. 649-655. PMID 10219778 .
  • AK Lampe et al.: Collagen VI related muscle disorders . J Med Genet. 2005 Sep; 42 (9), pp. 673-685. PMID 16141002 .
  • L. Merlini et al: Therapy of collagen VI-related myopathies (Bethlem and Ullrich). Neurotherapeutics . 2008 Oct; 5 (4), pp. 613-618. PMID 19019314
  • AJ van der Kooi et al: Cardiac and pulmonary investigations in Bethlem myopathy. Cardiac and pulmonary investigations in Bethlem myopathy. Arch Neurol . 2006 Nov; 63 (11), pp. 1617-1621. PMID 17101832