title: Camptocormia as presenting sign in myofibrillar myopathy.
abstract: Camptocormia, due to paraspinal muscle weakness, is seen in several types of myopathy. Myofibrillar myopathies (MFM) are histopathologically characterized by desmin-positive protein aggregates and myofibrillar disintegration. Camptocormia can be seen in the late stages of the known MFM diseases. We present a case of MFM with progressive camptocormia since the age of 64, isolated for 6years, followed later by upper and lower limb weakness. Camptocormia has never been described as the presenting clinical sign of MFM. MFM joins the growing number of myopathies potentially presenting with camptocormia.
authors: Department of Neurology, CHU Nîmes, Hôpital Caremeau, Place du Pr Debré, 30029 Nîmes Cedex 4, France. dimitrirenard@hotmail.com
authors: Dimitri
authors: D
authors: Renard
authors: Giovanni
authors: G
authors: Castelnovo
authors: Carla
authors: C
authors: Fernandez
authors: Andre Maues
authors: AM
authors: De Paula
authors: Sini
authors: S
authors: Penttilä
authors: Tiina
authors: T
authors: Suominen
authors: Bjarne
authors: B
authors: Udd
mesh_terms: D017668:Age of Onset; D000368:Aged; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000378:metabolism; D018450:Disease Progression; D005260:Female; D006801:Humans; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D009135:Muscular Diseases / Q000209:etiology / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D009210:Myofibrils / Q000235:genetics / Q000378:metabolism*; D013121:Spinal Curvatures / Q000150:complications / Q000235:genetics / Q000378:metabolism*
chemical_list: D003598:Cytoskeletal Proteins