J Korean Neurol Assoc.
2000 Sep;18(5):672-676.
A Case of Adult Onset Nemaline Myopathy with Selective Respiratory Muscle Weakness
- Affiliations
-
- 1Department of Neurology, College of Medicine, Yonsei Univiersity.
- 2Department of Neurology, College of Medicine, Dongguk University.
Abstract
- Nemaline myopathies, originally reported as a type of congenital myopathy, are clinically and genetically heterogenous diseases. Clinically, nemalin myopathies can be divided into infantile, juvenile and adult forms, and genetically, into autosomal dominant and recessive. There are several reports on nemalin myopathy in Korea, all juvenile forms, but not adult or infant form. In contrast to juvenile form, the adult congential nemalin myopathy is characterized by rather selective acute or subacute respiratory dysfunction in adult age with sporadic or autosomal recessive inheritance. Here, we report the first case of an adult form of nemalin myopathy, whose symptoms were rapidly developed at the age of 32. Therefore, nemalin myopathy can be included in the differential diagnosis for the unexplainable respiratory failure in adult age.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Case of Nemaline Myopathy
- Anesthetic Experience of the Patient with Nemaline Myopathy: A case report
- A Familial Nemaline Myopathy
- Clinical Heterogeneity in Korean Patients with Nemaline Myopathy
- A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress
