Hematopoietic Stem Cell Transplantation ; Humans ; Myopathies, Nemaline/therapy* ; Transplantation, Autologous

Humans ; Infant, Newborn ; Muscle Proteins ; Muscle, Skeletal ; Mutation ; Myopathies, Nemaline

Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.
Extremities ; Humans ; Muscle Weakness ; Muscular Diseases ; Mutation, Missense ; Myopathies, Nemaline ; Myopathies, Structural, Congenital ; Respiratory Insufficiency ; Ryanodine Receptor Calcium Release Channel ; Tropomyosin

No abstract available.
Central Nervous System* ; Myopathies, Nemaline*

Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity of cardiac disorders in NMDs as well as their diagnosis, treatment, and overall outcome. CI in NMDs is characterized by pathologic involvement of the myocardium or cardiac conduction system. Less commonly, additional critical anatomic structures, such as the valves, coronary arteries, endocardium, pericardium, and even the aortic root may be involved. Involvement of the myocardium manifests most frequently as hypertrophic or dilated cardiomyopathy and less frequently as restrictive cardiomyopathy, non-compaction, arrhythmogenic right-ventricular dysplasia, or Takotsubo-syndrome. Cardiac conduction defects and supraventricular and ventricular arrhythmias are common cardiac manifestations of NMDs. Arrhythmias may evolve into life-threatening ventricular tachycardias, asystole, or even sudden cardiac death. CI is common and carries great prognostic significance on the outcome of dystrophinopathies, laminopathies, desminopathies, nemaline myopathy, myotonias, metabolic myopathies, Danon disease, and Barth-syndrome. The diagnosis and treatment of CI in NMDs follows established guidelines for the management of cardiac disease, but cardiotoxic medications should be avoided. CI in NMDs is relatively common and requires complete work-up following the establishment of a neurological diagnosis. Appropriate cardiac treatment significantly improves the overall long-term outcome of NMDs.
Arrhythmias, Cardiac ; Cardiomyopathies ; Cardiomyopathy, Dilated ; Cardiomyopathy, Restrictive ; Coronary Vessels ; Death, Sudden, Cardiac ; Diagnosis ; Endocardium ; Glycogen Storage Disease Type IIb ; Heart Arrest ; Heart Diseases* ; Heart* ; Muscular Diseases ; Myocardium ; Myopathies, Nemaline ; Myotonia ; Neuromuscular Diseases ; Pericardium ; Tachycardia, Ventricular

No abstract available.
Distal Myopathies* ; Myopathies, Nemaline*

Actins ; metabolism ; Adult ; Desmin ; metabolism ; Electromyography ; Humans ; Male ; Microscopy, Electron, Transmission ; Muscle, Skeletal ; pathology ; ultrastructure ; Myopathies, Nemaline ; metabolism ; pathology

PURPOSE: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers. The purpose of this study was to investigate the clinical diversity and pathological features of Korean patients with NM. MATERIALS AND METHODS: Eight patients underwent analyses of clinical manifestations by a structured protocol. Diagnoses were established by a muscle biopsy. RESULTS: Two patients had the typical congenital type, which exhibited neonatal hypotonia and delayed motor milestone, and five patients had the childhood onset type, which exhibited mild gait disturbance as a first symptom. One patient had the adult onset type, which showed acute respiratory failure. Limb weakness was proximal-dominant occurred in six patients. Hyporeflexia was observed in most patients. Elongated faces and high arched palates and feet were also observed. On light microscopy, the nemaline bodies were observed in type 1 and 2 fibers. All patients showed type 1 predominance and atrophy. In the two cases in which ultrastructural studies were performed, typical nemaline rods and disorganized myofibrillar apparatus were detected. CONCLUSION: In conclusion, the eight Korean patients in this study with NM shared common clinical expressions such as proximal limb weakness, reduced deep tendon reflex, and dysmorphic features. This study, however, showed that clinical heterogeneity ranged from typical congenital, mildly affected childhood to the adult onset form with acute respiratory failure. The pathological findings in this study were in accordance with those of other previous reports.
Adolescent ; Adult ; Asian Continental Ancestry Group ; Female ; Humans ; Male ; Microscopy ; Myopathies, Nemaline/*pathology/physiopathology ; Reflex, Abnormal/physiology ; Young Adult

Adult ; Humans ; Male ; Myopathies, Nemaline ; diagnosis ; pathology

Childhood onset nemaline myopathy, first described in 1963 by Shy, et al and Conen, et al, is rare congenital myopathy, characterized by nonprogressive or slowly progressive muscle weakness associated with rod-like structures in muscle fibers, often with dysmorphic features. This myopathy was confirmed by muscle biopsy. The light microscopic features noted generally small round fibers that showed variation in size and occasional internal nuclei and characteristic rod bodies that could be demonstrated in the longitudinal sections stained with modified Gomori trichrome stain. Electromicroscopically there were accumulations of numerous irregular electron dense materials scattered between the myofibrils, particularly under the sarcolemma and enlargement and streamimg of the Z disk. We report a case of childhood onset nemaline myopathy in Korea in a 7 year- old boy who had nonprogressive muscle weakness of the limbs with a waddling gait.
Biopsy ; Extremities ; Gait ; Humans ; Korea ; Male ; Muscle Weakness ; Muscular Diseases ; Myofibrils ; Myopathies, Nemaline* ; Sarcolemma