title: [Multiple epiphyseal dysplasia: skeletal dysplasia presenting as neuromuscular disease].
abstract: BACKGROUND
  Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous skeletal dysplasia. MED is usually inherited as a dominant trait, however, in a quarter of patients it is a recessive trait. Common symptoms of MED are pain and stiffness of joints. However, MED also can present as a neuromuscular disorder with hypotonia and muscle weakness, particularly in childhood.
  
  
  METHODS
  We saw a 7-year-old boy with abnormal gait and slight weakness of the upper legs at our outpatient clinic. Because of his short stature and other skeletal anomalies, skeletal dysplasia was considered. The diagnosis of MED was confirmed by DNA analysis. A mutation in the cartilage oligomeric matrix protein (COMP) gene was found.
  
  
  CONCLUSIONS
  Skeletal dysplasia should be included in the differential diagnosis of children with unexplained neuromuscular symptoms.
authors.affiliation: Canisius-Wilhelmina Ziekenhuis, afd. Kinderneurologie, Nijmegen.
authors.forename: Carola J
authors.initials: CJ
authors.lastname: Jacobse
authors.forename: Aad
authors.initials: A
authors.lastname: Verrips
authors.forename: Paulien A
authors.initials: PA
authors.lastname: Terhal
authors.forename: Rutger A J
authors.initials: R
authors.lastname: Nievelstein
authors.forename: Patrick
authors.initials: P
authors.lastname: Rump
mesh_terms: D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics; D064236:Cartilage Oligomeric Matrix Protein / Q000235:genetics*; D002648:Child; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000235:genetics; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype
chemical_list: D064236:Cartilage Oligomeric Matrix Protein