About this Research Topic
A tremor phenomenon, defined as rhythmic, involuntary, oscillatory movements of body parts, has been described in many forms, both physiological conditions and pathological syndromes.
The known pathological forms are very heterogeneous. They include essential tremor, Parkinsonian tremor, and demyelinating neuropathies, all of which differ in tremor characteristics and etiology, and are caused by genetic, cerebrovascular, endocrine, infectious, autoimmune, and other factors.
Until now, nearly all pathological tremors were linked to a pacemaker in the central or peripheral nervous system, therefore a neurogenic origin was always considered for all tremors.
However, in 2019 there were two almost simultaneous reports on cases presenting with a myogenic tremor. Both described a novel dominantly inherited disease, associated with variants in the same gene. In both cases, no neurological causes for the tremor were found, with the affected protein - myosin binding protein C-1 having structural and regulatorily properties in the sarcomere. Furthermore, all the described pathologic variants are located in the same region of the protein, called the M-motif. All patients exhibited a persistent high-frequency tremor of extremities that was pronounced with posture or intent, and mild to moderate myopathy. Additional phenotypic traits included tongue tremor, contractures, and skeletal deformities in some of the affected individuals.
This discovery prompted the revisiting of previously described cases with associated mutations in exclusively sarcomeric proteins. As it turns out, tremor of possibly myogenic origin has been previously described in a number of cases, however, it was usually dismissed or ignored. This leads to the conclusion that myogenic tremor is not only a new entity, but may not be as rare as previously thought, and there might be several possible underlying mechanisms, depending on the affected protein.
This issue will compile the latest scientific research regarding the mechanisms, genetic background, and clinical cases associated with myogenic tremor and serve to help further understand and diagnose this novel medical entity.
• Possible myogenic tremor mechanisms - original research articles
• Different flavors of myogenic tremor - original research articles
• Myogenic tremor in clinics - case reports
• Myogenic tremor in the context of general tremor scene - review articles
The known pathological forms are very heterogeneous. They include essential tremor, Parkinsonian tremor, and demyelinating neuropathies, all of which differ in tremor characteristics and etiology, and are caused by genetic, cerebrovascular, endocrine, infectious, autoimmune, and other factors.
Until now, nearly all pathological tremors were linked to a pacemaker in the central or peripheral nervous system, therefore a neurogenic origin was always considered for all tremors.
However, in 2019 there were two almost simultaneous reports on cases presenting with a myogenic tremor. Both described a novel dominantly inherited disease, associated with variants in the same gene. In both cases, no neurological causes for the tremor were found, with the affected protein - myosin binding protein C-1 having structural and regulatorily properties in the sarcomere. Furthermore, all the described pathologic variants are located in the same region of the protein, called the M-motif. All patients exhibited a persistent high-frequency tremor of extremities that was pronounced with posture or intent, and mild to moderate myopathy. Additional phenotypic traits included tongue tremor, contractures, and skeletal deformities in some of the affected individuals.
This discovery prompted the revisiting of previously described cases with associated mutations in exclusively sarcomeric proteins. As it turns out, tremor of possibly myogenic origin has been previously described in a number of cases, however, it was usually dismissed or ignored. This leads to the conclusion that myogenic tremor is not only a new entity, but may not be as rare as previously thought, and there might be several possible underlying mechanisms, depending on the affected protein.
This issue will compile the latest scientific research regarding the mechanisms, genetic background, and clinical cases associated with myogenic tremor and serve to help further understand and diagnose this novel medical entity.
• Possible myogenic tremor mechanisms - original research articles
• Different flavors of myogenic tremor - original research articles
• Myogenic tremor in clinics - case reports
• Myogenic tremor in the context of general tremor scene - review articles
Keywords: genetic mechanism of myogenic tremor, Myogenic tremor
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