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. 2011 Oct;30(2):127-32.

Dysferlinopathy course and sportive activity: clues for possible treatment

C Angelini  1 , E Peterle, A Gaiani, L Bortolussi, C Borsato
Affiliations

Dysferlinopathy course and sportive activity: clues for possible treatment

C Angelini et al. Acta Myol. 2011 Oct.

Abstract

LGMD2B is a frequent proximo-distal myopathy with rapid evolution after age 20. Exacerbating factors may be physical exercise and inflammation. There is very little information about the effect of sportive activity in LGMD2B, since eccentric exercise frequently results in muscle damage. LGMD2B has often an onset with myalgia and MRI imaging (STIR-sequences) shows myoedema. In a prolonged observational study of a series of 18 MM/LGMD2B patients we have studied the pattern of clinical and radiological evolution. The disease has an abrupt onset in the second decade and most patients perform sports before definite disease onset. On the basis of Gardner-Medwin and Walton scale, grade 4 is reached two years faster in patients who performed sports (over 1000 hours). Other considerations regarding pathogenetic mechanism and response to treatment show a poor response to immunosuppressive treatment of muscle inflammation. Preventing a strenuous physical activity should be recommended in patients with high CK and diagnosed or suspected to have dysferlin deficiency.

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Figures

Figure 1.
Figure 1.
Derived evolution of several muscle compartment in 14 LGMD2B/Miyoshi patients studied by CT scan. First distal posterior leg muscles show dystrophic changes (A), then posterior thigh muscles (B), subsequently anterior leg muscle (C) and finally upper limb muscles (D).
Figure 2.
Figure 2.
Two-year difference in time to reach grade 4 in 7 sportive versus 5 non-sportive LGMD2B patients. Cutoff time was put at 1000 hours of different sports (swimming, body building, soccer, cyclette, mountain bike, jogging, karate, basket, volley, dancing, gym, ski, hip-hop dancing) or outside working physical activity. A worsening in motor function was seen in sportive patients before disease onset.
Figure 3.
Figure 3.
Time in years (mean = 8 years) to reach grade 4 of GMW scale in 10 LGMD2B patients.
Figure 4.
Figure 4.
Evolution of GSGCA scale in a period of 8 years (from 2001 to 2009) in 12 LGMD2B patients. There is a worsening of functional grade performances that occurs at different times. The values of grades over 25 already express a severe involvement and therefore a further functional worsening is unlikely.
Figure 5.
Figure 5.
Last clinical examination in two affected brothers: inability to lift arms (left-hand panel) and difficulty climbing stairs (right-hand panel).
Figure 6.
Figure 6.
Fibro-fatty replacement (left-hand panel, T1 sequence) and myoedema (right-hand panel, STIR sequence) on muscle MRI.
See this image and copyright information in PMC

References

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