Document Detail


Progressive scoliosis in central core disease.
MedLine Citation:
PMID:  15926054     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Central core disease (CCD) is a rare congenital myopathy with autosomal dominant inheritance. Here, we report on two cases of progressive scoliosis in CCD, pointing out the value of a muscle biopsy to establish the correct diagnosis. The first case involves a 13-year-old boy with severe progressive scoliosis and joint contractures. The patient was initially diagnosed with arthropgryposis multiplex congenita. The second case involves a 45-year-old man with severe scoliosis that had slowly progressed over the years. Both patients suffered from unexplained muscle weakness and severe restriction of pulmonary function. The correct diagnoses were established through muscle biopsies taken from the paravertebral musculature during scoliosis surgery. Correction of the spinal deformities was achieved through posterior instrumentation in both patients, with prior anterior release in one patient. Although scoliosis is a common feature in CCD, the correct diagnosis can be missed in scoliosis patients. Therefore, we recommend a muscle biopsy in patients with scoliosis, unexplained muscle weakness and multiple joint problems.
Authors:
Kirsten D Mertz; Bernhard Jost; Markus Glatzel; Kan Min
Related Documents :
9196904 - C4342t-mutation in the scn4a gene on chromosome 17q in a swedish family with paramyoton...
22196064 - A comprehensive study of the extensor tendons to the medial four digits of the hand.
8407264 - Eosinophilic fasciitis: a good response with conservative treatment.
3275904 - Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.
691864 - Electrophysiological comparison between the longitudinal and circular muscles of the ra...
15160484 - Effects of ovariectomy and estrogen on skeletal muscle function in growing rats.
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2005-05-31
Journal Detail:
Title:  European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society     Volume:  14     ISSN:  0940-6719     ISO Abbreviation:  Eur Spine J     Publication Date:  2005 Nov 
Date Detail:
Created Date:  2005-12-13     Completed Date:  2006-02-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9301980     Medline TA:  Eur Spine J     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  900-5     Citation Subset:  IM    
Affiliation:
Institute of Neuropathology, University Hospital Zurich, Switzerland.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adolescent
Humans
Male
Middle Aged
Muscle, Skeletal / pathology,  ultrastructure
Myopathy, Central Core / complications*,  diagnosis*
Pedigree
Scoliosis / etiology*,  radiography,  surgery

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Determination of ochratoxin A in Portuguese rice samples by high performance liquid chromatography w...
Next Document:  Proliferation potential of spinal meningiomas.