G Ital Cardiol ; more commonly reported in affected males than females. Des- Olive-Plana M. Myofibrillar myopathies. Rev Neurol ; Autosomal do- the systemic nature of this rare myopathy. Ann Neurol ; Arrhythmia and conduction Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth Atrioventricular block AVB of variable degrees has been muscle. Hum Pathol ; The early manifestation of 8. Hum conduction system 18, Atrial fibrillation AF is the most fre- Pathol ; Three out of six cases with 9.
Myofibrillar myopathy with ab- arrhythmia had chronic AF in addition to history of recurrent normal foci of desmin positivity II. J Neuropathol Exp Neurol ; Mavroidis M, Capetanaki Y. Extensive induction of important medi- Coronary artery involvement ators of fibrosis and dystrophic calcification in desmin-deficient cardiomyopathy.
Am J Pathol ; Cytoplasmic granulofilamentous inclusions within the smo- Neurology ; Table 1. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Myofibrillar myopathy. You can help advance rare disease research! This site is in-development and may not reflect the final version. Preview the new GARD site. Other Names:. Desminopathy type ; Alpha Beta crystallinopathy type ; Myotilinopathy type ; Desminopathy type ; Alpha Beta crystallinopathy type ; Myotilinopathy type ; Zaspopathy type ; Filaminopathy type ; Desmin storage myopathy former name ; Desmin related myopathy former name ; Protein surplus myopathy former name See More.
Summary Summary. Symptoms Symptoms. Myofibrillar myopathy MFM primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart cardiac muscle is also affected. The signs and symptoms of MFM vary among affected individuals, typically depending on the exact genetic cause of the disease. Most people with this disease begin to develop muscle weakness myopathy in mid-adulthood.
However, features of this disease can appear anytime between infancy and late adulthood. Facial muscle weakness can rarely cause swallowing and speech difficulties. The muscle weakness is progressive, meaning that it tends to worsen over time. For some people, as the disease progresses, the muscles of the lungs may also be affected, which can result in respiratory failure.
Individuals with this disease may have skeletal problems including joint stiffness contractures and abnormal curvature of the spine scoliosis. Rarely, people with this disease develop clouding of the front surface of the eyes cataracts. Showing of 18 View All. Symptoms begin in adulthood. Slow heartbeats. Stretched and thinned heart muscle. Enlarged and thickened heart muscle. Decreased lung function due to weak breathing muscles.
Complete heart block. Watery stool. Weakness of outermost muscles. Bell's palsy. Floppy neck. Do you have more information about symptoms of this disease? We want to hear from you. Do you have updated information on this disease?
Cause Cause. Specifically, the muscles are divided into units called sarcomeres. The proteins that are made by these genes are responsible for linking the sarcomeres together so that they are strong enough to help our bodies move. The datasets generated for this study are available on request to the corresponding author. Ethical review and approval was not required for the study on human participants in accordance with the local legislation and institutional requirements. Written informed consent for participation was not required for this study in accordance with the national legislation and the institutional requirements.
SN: study design, data collection, and drafting of a first version of the manuscript. BH: review of the MRI images and critical revision of the manuscript. EN: study design, data collection, study supervision, and critical revision of the manuscript.
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Selcen D, Engel AG. Myofibrillar myopathies. Handb Clin Neurol. Milone M, Liewluck T. The unfolding spectrum of inherited distal myopathies. Muscle Nerve. Palmio J, Udd B. Myofibrillar and distal myopathies.
Rev Neurol. Claeys KG, Fardeau M. The diagnostic value of MRI pattern recognition in distal myopathies. Front Neurol. Myofibrillar myopathies: state of the art, present and future challenges. Desmin-related myopathy.
Clin Genet. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. Computerized tomography pacemaker for complete heart block at the age of 21; of the chest revealed compressive atelectasis both had no evidence of skeletal myopathy. The secondary to pleural effusion, and pulmonary third sister is not known to have any chronic illness.
There was consanguinity of Histopathology and neurologic studies of the second degree between his parents. Electromyography revealed A bedridden and cachectic male patient is alert absent or low amplitude motor responses in the right and conscious with average intelligence. On auscultation, S1, S2, and systolic potentials with mainly short duration, polyphasic murmur on the lower left sternal border increases motor unit potentials with rapid recruitment in all with inspiration.
Abdominal examination showed muscles but significantly worse distally. Those mild ascites and hepatomegaly. He has mild facial electro physiologic findings supported the diagnosis muscle weakness, mild tongue base weakness and of chronic myopathy.
The presence of fibrillation delayed swallowing. Upper and lower limbs potentials suggested ongoing myonecrosis, fiber examination showed massive lower limbs edema up splitting or vacuolar inclusions. Biopsy of the left to the sacrum. He has muscles weakness with distal vastus lateralis indicated myofibrous degeneration; muscle wasting while limbs sensation was intact.
He however, desmin stain was negative. Laboratory investigations revealed evidence of chronic anemia, mild Discussion. The current study reported the hypocalcemia and hypokalemia with no evidence of first family with confirmed MFM in the Middle East malabsorption.
Serum creatinine kinase was normal. His most recent This study highlighted the importance of echocardiogram revealed a picture suggestive of considering MFM in young patients presenting with Saudi Med J ; Vol. El-Menyar et al idiopathic cardiomyopathy or AV block. This is the In conclusion, MFM is a rare genetic disorder first report that presented 2 different types of that should be considered in the differential cardiomyopathy restrictive and obstructive and 2 diagnosis of idiopathic cardiomyopathy.
Whether different indications of permanent pacemaker this condition is commonly overlooked or a rare placement in 3 young members of one family of the condition is unknown and requires further same generation. As there is considerable clinical epidemiologic studies. High index of suspicion is and pathological heterogeneity, the needed for early diagnosis, and subsequently geno-phenotypical correlations are expected to be permanent pacemaker or heart transplantation might very difficult in MFM5 and this may explain the be considered.
The age of presentation in the current family is younger than those previously Acknowledgment. We would like to acknowledge all physicians and nurses who assisted in the diagnosis and reported.
Furthermore, our patient has unexplained significant References pericardial effusion, and bipolar affective disorder 1. Bellini O, et al. Restrictive cardiomyopathy, Myofibrillar myopathy and DRM are synonymously atrioventricular block and mild to subclinical myopathy in applied to a combination of familial myopathy and patients with desmin—immunoreactive material deposits.
J Am Coll Cardiol ; 1:
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