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Background: Magnetic resonance (MRI) imaging of the skeletal muscles (muscle MRI for short) is increasingly being used in clinical routine for diagnosis and longitudinal assessment of muscle disorders. However, cross-centre standards for measurement protocol and radiological assessment are still lacking. Objectives: The aim of this expert recommendation is to present standards for the application and interpretation of muscle MRI in hereditary and inflammatory muscle disorders. Methods: This work was developed in collaboration between neurologists, neuroradiologists, radiologists, neuropaediatricians, neuroscientists and MR physicists from different university hospitals in Germany. The recommendations are based on expert knowledge and a focused literature search. Results: The indications for muscle MRI are explained, including the detection and monitoring of structural tissue changes and oedema in the muscle, as well as the identification of a suitable biopsy site. Recommendations for the examination procedure and selection of appropriate MRI sequences are given. Finally, steps for a structured radiological assessment are presented. Conclusions: The present work provides concrete recommendations for the indication, implementation and interpretation of muscle MRI in muscle disorders. Furthermore, it provides a possible basis for the standardisation of the measurement protocols at all clinical centres in Germany. [ABSTRACT FROM AUTHOR]

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Muscle weakness is a common symptom in the general practice. The diagnostic work-up starts with distinguishing true muscle weakness from fatigue. The localization, time course and severity of muscle weakness as well as associated symptoms, concomitant diseases, medication and family history can help classify the weakness into certain main categories. These are genetic, inflammatory, infectious, neoplastic, toxic and metabolic/endocrine causes. Further laboratory investigations, ENMG, MRI, muscle biopsy and genetic testing can help to further narrow the differential diagnosis. Due to recent advances, particularly in the field of genetics and targeted immunomodulatory therapies, a growing number of diseases which present with muscular weakness can be treated successfully. [ABSTRACT FROM AUTHOR]

Copyright of Der Internist is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Chronic fatigue is a non-specific symptom, frequent in outpatient adults' consultations. Persistent physical fatigue of unknown etiology should prompt the search for rare diseases including inherited metabolic disorder (IMD) after elimination of common causes. The main characteristic of chronic fatigue in IMD is its dynamic nature, worsened by circumstances leading to an increased metabolism such as physical exertion, cold, fasting or infection. IMD leading to chronic fatigue are metabolic myopathies, in particular glycogen storage disease affecting muscle, fatty acid oxidation disorders and mitochondrial diseases. The diagnosis is confirmed by specific biochemical and/or molecular analyzes with multidisciplinary management. [ABSTRACT FROM AUTHOR]

Systemic treatment in oncology has become more biomarker-based, molecularly tailored and effective. Building on increasing scientific insights into cell biological and molecular mechanisms, the number of targeted drug therapies is also increasing. There is also an increase in the number of long-term survivors. Neuro(onco)logical care is becoming increasingly more important, not only because of increased direct tumor-related symptoms, such as higher incidence of central nervous system metastases, but also because a broad spectrum of treatment-associated neurological symptoms occur during the course of these modern oncological systemic therapies, which require careful and fast neurological/neuro-oncological evaluation and treatment. The goal of this article is to raise awareness of the most common treatment-associated neurologic symptoms. [ABSTRACT FROM AUTHOR]

Background: Magnetic resonance (MRI) imaging of the skeletal muscles (muscle MRI for short) is increasingly being used in clinical routine for diagnosis and longitudinal assessment of muscle disorders. However, cross-centre standards for measurement protocol and radiological assessment are still lacking., Objectives: The aim of this expert recommendation is to present standards for the application and interpretation of muscle MRI in hereditary and inflammatory muscle disorders., Methods: This work was developed in collaboration between neurologists, neuroradiologists, radiologists, neuropaediatricians, neuroscientists and MR physicists from different university hospitals in Germany. The recommendations are based on expert knowledge and a focused literature search., Results: The indications for muscle MRI are explained, including the detection and monitoring of structural tissue changes and oedema in the muscle, as well as the identification of a suitable biopsy site. Recommendations for the examination procedure and selection of appropriate MRI sequences are given. Finally, steps for a structured radiological assessment are presented., Conclusions: The present work provides concrete recommendations for the indication, implementation and interpretation of muscle MRI in muscle disorders. Furthermore, it provides a possible basis for the standardisation of the measurement protocols at all clinical centres in Germany., (© 2024. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Endocrine orbitopathy (EO), also known as Graves' orbitopathy or thyroid-associated orbitopathy, is a self-limiting, immunologically induced co-reaction of the retrobulbar tissue of the eye triggered by an autoimmune disease of the thyroid gland. It is particularly associated with Graves' disease and is its most common extrathyroidal manifestation. In addition to typical anamnestic data, characteristic local findings and laboratory changes in immunothyroidism, orbital imaging plays a central role in the diagnosis and management of this disease. This review article provides comprehensive insight into various imaging modalities used to assess morphologic changes associated with EO. A detailed presentation of imaging findings provides a better understanding of orbital physiology., (© 2024. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

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With the increasing understanding of the specific molecular and cellular pathogenesis of cancer, systemic cancer treatment has become much more targeted and in part substantially more effective. The increased number of long-term survivors and the number of highly specific targeted therapies have resulted in a wide range of neurological complications. Neurologists are increasingly confronted with previously unknown neurological complications of cancer treatment. A profound understanding of the molecular and cellular mechanisms of action of anticancer drugs is the key for a prompt diagnosis and appropriate treatment of these treatment-associated neurological complications. [ABSTRACT FROM AUTHOR]

Introduction: Muscle weakness is a common symptom in the general practice. The diagnostic work-up starts with distinguishing true muscle weakness from fatigue. The localization, time course and severity of muscle weakness as well as associated symptoms, concomitant diseases, medication and family history can help classify the weakness into certain main categories. These are genetic, inflammatory, infectious, neoplastic, toxic and metabolic/endocrine causes. Further laboratory investigations, ENMG, MRI, muscle biopsy and genetic testing can help to further narrow the differential diagnosis. Due to recent advances, particularly in the field of genetics and targeted immunomodulatory therapies, a growing number of diseases which present with muscular weakness can be treated successfully., Competing Interests: Es bestehen keine Interessenskonflikte., (© 2023 Aerzteverlag medinfo AG.)

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Radiation-induced tissue damage is caused by ionizing radiation mainly affecting the skin, vascular, neuronal or muscle tissue. Early damages occur within weeks and months while late damages may occur months or even decades after radiation. Radiation-induced paresis of the spine or the trunk muscles with camptocormia or dropped-head syndrome are rare but have already been described as long-term sequelae after treatment of Hodgkin's lymphoma. The differential diagnosis includes limb-girdle muscular dystrophy, fascioscapulohumeral muscular dystrophy (FSHD) or lysosomal storage diseases (e. g. Acid Maltase Deficiency). We present the case of a patient with long lasting diagnostics over many months due to different inconclusive results. [ABSTRACT FROM AUTHOR]

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Zusammenfassung Leitsymptom ist eine Schwäche der Muskeln mit variablem Schwerpunkt, die tageszeitlich oder auch belastungsabhängig sein kann. Störungen der Sensibilität kommen nicht vor. Die Diagnostik bei Myopathien oder myasthenen Syndromen sind typische Domänen der Elektromyo- und Elektroneurografie. Die typischen Befunde werden vorgestellt und erklärt. Summary Leading symptom is a muscular weakness with variable location which may depend on day time or on exercise. Sensory disturbances do not occur. Diagnostic management for myopathis and myasthenic syndromes are domains of electromyography and nerve conduction studies. Typical results are presented and explained. [ABSTRACT FROM AUTHOR]

A 53-year-old man presented with rhabdomyolysis and acute kidney injury. The symptoms were presumably caused by a drug-drug interaction between an antiretroviral drug combination and atorvastatin. As a booster, cobicistat can also increase the toxicity of statins via inhibition of the enzyme cytochrome p450 3A4 (CYP3A4). After stopping atorvastatin and after intravenous fluid therapy, the symptoms regressed completely., (© 2022. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

In this society with an ever increasing number of the elderly there is an increasing number of causes of a bent spine syndrome (camptocormia/dropped head syndrome). The causes include neurological, neuro-orthopedic, rheumatological and psychiatric disorders. Parkinson's disease, dystonia and neuromuscular diseases (motor neuron disease, myositis and muscular dystrophy) with weakness of the axial muscles may result in bent spine syndrome and is often combined with a dropped head. Disc herniation, hypertrophic spondylosis or pseudospondylolisthesis with spinal narrowing may lead to an abnormal flexion of the trunk. Ankylosing spondylitis can produce a disabling bent spine syndrome. Camptocormia may also be mimicked by osteoporotic fractures of the vertebral bones with wedge-shaped vertebrae. In some cases camptocormia is related to a psychogenic disorder. [ABSTRACT FROM AUTHOR]

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This syndrome is characterized by the presence of hypothyroidism with myxoedema, muscle stiffness and pseudo hypertrophy. We describe the disorder in a 21 year old male, who got admitted with complaints of generalized weakness, cold intolerance, constipation, and hoarse voice, difficulty in walking and progressive enlargement of muscles of thighs and back with crampy pains for two years. Examination revealed mild mental retardation, enlarged tongue, dry and rough skin, enlargement of thighs and back muscles, motor weakness in flexors of hips and knees with delayed relaxation of deep tendon reflexes. Investigations revealed evidence of hypothyroidism with marked elevation of muscle enzymes. Following institution of replacement therapy with thyroxine, the patient showed marked clinical and biochemical improvements after six months, but insignificant decrease in muscle mass. In this report we review relevant literature.

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Systemic treatment in oncology has become more biomarker-based, molecularly tailored and effective. Building on increasing scientific insights into cell biological and molecular mechanisms, the number of targeted drug therapies is also increasing. There is also an increase in the number of long-term survivors. Neuro(onco)logical care is becoming increasingly more important, not only because of increased direct tumor-related symptoms, such as higher incidence of central nervous system metastases, but also because a broad spectrum of treatment-associated neurological symptoms occur during the course of these modern oncological systemic therapies, which require careful and fast neurological/neuro-oncological evaluation and treatment. The goal of this article is to raise awareness of the most common treatment-associated neurologic symptoms., (© 2021. The Author(s).)

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Case report on 2 non related patients suffering from myotonic dystrophy in addition with signs of syringomyelia. The possible pathogenesis of this unusual combination is discussed. [ABSTRACT FROM AUTHOR]

Introduction: Creatine kinase (CK) is a muscle enzyme that is very sensitive to muscle damage. Therefore, serum CK is measured particularly to confirm suspected myopathy. Since 2013, this enzyme has been included in the routine chemistry profile in our hospital. Soon thereafter, the subjective impression developed that its elevation did not correlate to and was not explainable with the actual clinical problem. Therefore, the aim of this retrospective study was to investigate in which clinical cases the CK elevation was adequate and in which cases without clinical evidence of muscle damage the CK was so markedly elevated that it implied a clinically relevant muscle damage. For this purpose, we evaluated the CK values of 1641 cats presented in the years 2013/2014 at our university animal hospital. The CK was comprehensibly elevated in cats with trauma and various diseases with obvious and traceable muscle damage like thrombo-embolic damage or seizures. In addition, the CK was elevated in diseases where concomitant muscle damage is perceivable like in cats with hypertrophic cardiomyopathy. However, the CK also was commonly and sometimes dramatically elevated in cats of essentially any disease group without any comprehensible skeletal muscular lesion. These results confirm the hypothesis that the diagnostic value of this parameter is most questionable. A CK elevation does not allow any conclusion regarding its original diagnostic purpose, i.e. to confirm the presence of a clinically relevant myopathy.