Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease.
Summary of "Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease."
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.
Affiliation
Division of Pneumology, Scientific Institute of Telese Terme, Salvatore Maugeri Foundation, Telese Terme (BN), 82037 Italy. salvatore.fuschillo@fsm.it.
Journal Details
This article was published in the following journal.
Name: Respiratory care
ISSN: 0020-1324
Pages: 1091-3
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20667157
- DOI: http://dx.doi.org/
Medical and Biotech [MESH] Definitions
Myasthenia Gravis
A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)
Muscle, Skeletal
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
Respiratory Muscles
These include the muscles of the DIAPHRAGM and the INTERCOSTAL MUSCLES.
Churg-strauss Syndrome
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
Carbonic Anhydrase Iii
A cytosolic carbonic anhydrase isoenzyme primarily expressed in skeletal muscle (MUSCLES, SKELETAL). EC 4.2.1.-
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