scholarly journals A Case of Nemaline Myopathy With Associated Dilated Cardiomyopathy and Respiratory Failure

2011 ◽  
Vol 52 (6) ◽  
pp. 401-405 ◽  
Author(s):  
Rihito Nagata ◽  
Daisuke Kamimura ◽  
Yoji Suzuki ◽  
Toshihiko Saito ◽  
Hideshi Toyama ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Dilated Cardiomyopathy ◽  
Nemaline Myopathy

Nemaline Myopathy as a Cause of Sleep Hypoventilation

PEDIATRICS ◽  
1986 ◽  
Vol 77 (3) ◽  
pp. 390-395
Author(s):  
Ch. Maayan ◽  
C. Springer ◽  
Y. Armon ◽  
E. Bar-Yishay ◽  
V. Shapira ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Respiratory Failure ◽  
Ventilatory Response ◽  
Nemaline Myopathy ◽  
Cor Pulmonale ◽  
Systemic Hypertension ◽  
Older Patient ◽  
And Function ◽  
Ventilatory Response To Co2

Two siblings, a 14.5-year-old boy and his 11.5-year-old sister, with congenital nemaline myopathy presented with severe respiratory failure and, in the case of the older patient, with cor pulmonale and systemic hypertension. The children were treated initially by continuous mechanical ventilation, but after a few weeks they only required ventilation at night. At the start of treatment, both were found to have a decreased ventilatory response to CO2 which apparently improved during 4 to 5 years of follow-up treatment. It has not been possible to wean them from nocturnal mechanical ventilation, but during the daytime they attend school and function almost normally. It is postulated that respiratory failure in nemaline myopathy may not be related to the severity of the muscle weakness but may result from a disturbance of the feedback required for normal control of breathing.

scholarly journals Fatal Nemaline Myopathy in Infancy

1984 ◽  
Vol 11 (2) ◽  
pp. 305-309 ◽  
Author(s):  
Joseph B. McMenamin ◽  
Bernadette Curry ◽  
Glen P. Taylor ◽  
Laurence E. Becker ◽  
E. Gordon Murphy
Keyword(s):  
Respiratory Failure ◽  
Peripheral Nerves ◽  
Neonatal Period ◽  
Nemaline Myopathy ◽  
Clinical Findings ◽  
Neural Basis ◽  
Limb Muscles ◽  
The Central Nervous System ◽  
Severe Hypotonia ◽  
Clinical Stability

ABSTRACT:The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pathological findings in the fatal neonatal case revealed numerous rod bodies in lingual, pharyngeal, diaphragm and limb muscles, correlating with clinical findings. Significant, but less rod body involvement was found in the diaphragm and limb muscles of the second patient. Although a neural basis has been suggested for this disorder, no abnormalities were found in the central nervous system or in the peripheral nerves of these two severely affected patients.

scholarly journals An Autopsy Case of Dilated Cardiomyopathy Associated with Congenital Nemaline Myopathy

2008 ◽  
Vol 97 (2) ◽  
pp. 413-416 ◽  
Author(s):  
Chiharu Take ◽  
Hiroshi Asano ◽  
Akio Komatsu ◽  
Michiyo Miyaji ◽  
Kiichiro Iikuni ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Nemaline Myopathy ◽  
Autopsy Case

G.P.32 Progressive core myopathy with dilated cardiomyopathy, respiratory failure and severe scoliosis caused by a novel mutation in the MYH7 gene

2012 ◽  
Vol 22 (9-10) ◽  
pp. 817-818
Author(s):  
A. Sarkozy ◽  
T. Polvikoski ◽  
M. Eagle ◽  
H. Lochmüller ◽  
K. Bushby ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Dilated Cardiomyopathy ◽  
Novel Mutation ◽  
Severe Scoliosis ◽  
Core Myopathy

Respiratory failure in nemaline myopathy

1997 ◽  
Vol 16 (4) ◽  
pp. 344-346 ◽  
Author(s):  
Masayuki Sasaki ◽  
Machiko Takeda ◽  
Keiko Kobayashi ◽  
Ikuya Nonaka
Keyword(s):  
Respiratory Failure ◽  
Nemaline Myopathy

Congenital nemaline myopathy with dilated cardiomyopathy: An autopsy study

1990 ◽  
Vol 21 (1) ◽  
pp. 77-82 ◽  
Author(s):  
Hatsue Ishibashi-Ueda ◽  
Masami Imakita ◽  
Chikao Yutani ◽  
Saori Takahashi ◽  
Kenji Yazawa ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Nemaline Myopathy ◽  
Autopsy Study

scholarly journals Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child

2019 ◽  
Vol 62 (11) ◽  
pp. 103567 ◽  
Author(s):  
Haley Streff ◽  
Weimin Bi ◽  
Athos G. Colón ◽  
Adekunle M. Adesina ◽  
Christina Y. Miyake ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Gene Deletion ◽  
Nemaline Myopathy ◽  
Contiguous Gene
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