title: Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease.
abstract: The natural course of progressive neuromuscular diseases can be complicated by respiratory muscle involvement. In muscular dystrophies such as Duchenne muscular dystrophy and myotonic dystrophy, respiratory muscle involvement is common. In others such as Becker, limb-girdle, and facioscapulo-humeral dystrophies, respiratory muscle involvement is infrequent and generally occurs in the more severe cases. Recently, it was reported that a mutation in the dysferlin gene and/or dysferlin deficiency causes proximal and distal forms of muscular dystrophy, which are known by the term dysferlinopathy. We describe a case of severe weakness of both limb-girdle and respiratory muscles in a patient who was carrier of the dysferlin gene mutation and who also had COPD. We suggest that the systemic inflammatory response of COPD and the dysferlin deficit interact and are responsible for both the skeletal and respiratory muscle impairment.
authors.affiliation: Division of Pneumology, Scientific Institute of Telese Terme, Salvatore Maugeri Foundation, Telese Terme (BN), 82037 Italy. salvatore.fuschillo@fsm.it
authors.forename: Salvatore
authors.initials: S
authors.lastname: Fuschillo
authors.forename: Yvan
authors.initials: Y
authors.lastname: Torrente
authors.forename: Giovanni
authors.initials: G
authors.lastname: Balzano
mesh_terms: D000368:Aged; D001784:Blood Gas Analysis; D000073939:Dysferlin; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics; D029424:Pulmonary Disease, Chronic Obstructive / Q000209:etiology* / Q000503:physiopathology; D012129:Respiratory Function Tests; D012132:Respiratory Muscles / Q000503:physiopathology
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins