A Case of Adult Onset Nemaline Myopathy with Selective Respiratory Muscle Weakness.
- Author:
So Gang PARK
1
;
Jee Huen KIM
;
Min Kyung CHU
;
Jong Reun LEE
;
Seo Hyun KIM
;
Seung Min KIM
;
Il Nam SUNWOO
Author Information
1. Department of Neurology, College of Medicine, Yonsei Univiersity.
- Publication Type:Case Report
- Keywords:
Adult;
Myopathies/Nemalin;
Respiratory Insufficiency
- MeSH:
Adult*;
Diagnosis, Differential;
Humans;
Infant;
Korea;
Muscular Diseases;
Myopathies, Nemaline*;
Respiratory Insufficiency;
Respiratory Muscles*;
Wills
- From:Journal of the Korean Neurological Association
2000;18(5):672-676
- CountryRepublic of Korea
- Language:Korean
-
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.
