Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers |
| |
| Authors: | Jimmy Sundblom MD Erik Stålberg MD PhD Maria Österdahl MD Franz Rücker MD Maria Montelius MSc Hannu Kalimo MD PhD Inger Nennesmo MD PhD Gunilla Islander MD PhD Anja Smits MD PhD Niklas Dahl MD PhD Atle Melberg MD PhD |
| |
| Affiliation: | 1. Email:jimmy.sundblom@neuro.uu.se or atle.melberg@neuro.uu.se;4. Department of Neuroscience, Neurology, University Hospital, Uppsala University SE‐751 85 Uppsala, Sweden;5. Department of Neuroscience, Clinical Neurophysiology, University Hospital, Uppsala University SE‐751 85 Uppsala, Sweden;6. Department of Pediatrics, Visby Hospital, SE‐621 84 Visby, Sweden;7. Department of Medicine, Visby Hospital, SE‐621 84 Visby, Sweden;8. Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University and University Hospital, SE‐751 85 Uppsala, Sweden;9. Department of Pathology, Uppsala University and Uppsala University Hospital, SE‐751 85 Uppsala, Sweden, and Department of Pathology, University of Helsinki, Helsinki, Finland;10. Division of Pathology, Karolinska University Hospital Huddinge, SE‐141 86 Huddinge, Sweden;11. MH Unit, Department of Intensive‐ and perioperative care, Lund University Hospital, SE‐221 85 Lund, Sweden |
| |
| Abstract: | Thirty‐nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype–phenotype correlations. Clinical, neurophysiological, and muscle morphological examinations were performed. Genetic analysis was performed in 38 individuals. Twenty‐three patients had percussion‐induced muscle mounding (PIMM) and percussion‐induced rapid contractions (PIRC). Rippling and hyperCKemia were not found in all patients. Weakness was minor or absent. The electromyogram showed absence of electrical activity in ripples and PIMM, and muscle biopsy specimens confirmed caveolin‐3 deficiency and absence of caveolae. Genetic analysis revealed a CAV3 c.G136A transition resulting in a p.A46T missense mutation in affected family members. The phenotype in these 23 cases of RMD with this mutation appears to be homogenous, benign, and nonprogressive. The presence of PIMM and PIRC seems to be diagnostic at all ages, whereas the absence of hyperCKemia and rippling does not exclude the diagnosis. Muscle Nerve, 2010 |
| |
| Keywords: | Caveolin‐3 electromyogram mutation rippling stiffness |
|
|
