J Finsterer

..BGC occurs in one sixth of non-selected patients with mitochondriopathy and is associated with clinical and imaging CNS abnormalities and multisystem disease in the majority of them...

..In reverse, all patients with LVHT should undergo a comprehensive neurological investigation following the detection of LVHT...

..LQTS, due to a KVLQT1 mutation, may manifest not only in the heart, but subclinically also in the skeletal muscle...

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..In 10 of these patients CK was normal at follow-up. CK-elevation remained idiopathic in 54%. Idiopathic CK-elevation should be comprehensively re-evaluated, even if CK is only slightly elevated or normal at follow-up...

..Left ventricular hypertrabeculation (LVHT)/non-compaction, a rare myocardial abnormality and frequently associated with neuromuscular disorders, has not been reported in primary myoadenylate-deaminase (MAD) deficiency (MADD)...

..The history, clinical neurological examinations, blood chemistry investigations, electromyography, and muscle biopsy also provide information that is helpful for the diagnosis. No causal therapy is currently available...

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..No other cardiac abnormalities were found. In conclusion, LHON without other neurological abnormalities may be associated with lone left ventricular noncompaction. Patients with LHON should undergo a cardiologic investigation...

..The specificity of the LST1 (LST2) was 67% (86%). Sensitivity and specificity of the LST2 are higher than that of the LST1. The LST2 can thus replace the LST1, since it is also easier to handle, quick, reliable, and cheaper...

..Unfortunately, she died suddenly from a cardiac arrhythmia at home. Mitochondrial disorder may mimic motor neuron disease, muscle biopsy may mimic myositis, and may show only little evidence for respiratory chain disorder...

..The rapidly increasing understanding of the pathophysiological background of MCPs may further facilitate the diagnostic approach and open perspectives to future, possibly causative therapies...

..Based upon these findings, the cardiovascular risk of needle-EMG from changes in blood-pressure or heart-rate is regarded negligibly low...

..Anti-Parkinson medication is of limited effect...

..This case shows that severe, generalized, occlusive vascular disease may be due to the combination of various genetic risk factors for atherosclerosis and venous thromboembolism...

..Valproate, carbamazepine, corticosteroids, acetyl salicylic acid, local and volatile anesthetics should be applied with caution. Avoiding certain drugs is often more beneficial than application of established, apparently indicated drugs...

..Upon adequate treatment of Parkinson's disease, the tremor artefact immediately disappears from the ECG...

..Patients with dermatomyositis should undergo a comprehensive cardiological investigation as soon as the neurological diagnosis is established...

..In single patients abnormally long-lasting interferon alpha therapy may cause multifocal white matter lesions supratentorially and sensory-motor polyneuropathy...

..The sensitivity of the LST is higher than that of resting lactate determination. The LST is a simple and cheap but effective and reliable screening method for detecting the impaired oxidative metabolism in MMP...

..Unilateral periventricular pseudocysts (PVPC), manifesting as ipsilateral headache have been only rarely reported in adults...

..Short-term, general muscle affection is frequent in Dengue infection, but severe, persisting, myositis has not been reported...

..The patient's infection, regular sports activity despite the infection, and a suspected mitochondrial defect were regarded as triggers of rhabdomyolysis...

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..MFS may manifest as unilateral lower cranial nerve lesions without affection of the upper cranial nerves or ataxia. Atypical MFS may be triggered by parasinusoidal aspergilloma...

..These histopathological findings suggest that LVHT represents a compensatory attempt to overcome the failing compacted but dystrophic myocardium...

..This case illustrates that leptospirosis may start as carpal tunnel syndrome and that the severity of leptospirosis does not seem to be related to the intensity of the humoral immune response against the causative agent...

..In addition, such treatment may be associated with serious side effects. Recent data support the use of rituximab, a monoclonal antibody against the B-cell surface-membrane-marker CD20...

..The adverse reaction resolved spontaneously within 48 hours without sequelae. Administration of articaine may cause severe side effects in patients with Kearns-Sayre syndrome. Articaine should be used with caution in these patients...

..This study shows that CSF-NSE is elevated in only one quarter of the MEM patients. Determination of CSF-NSE appears to be of minor importance for the assessment of clinical or subclinical CNS involvement in MEM...

..Although there is no causal therapy for MCPs, adequate symptomatic therapy, particularly of visceral manifestations, markedly improves quality of life and prognosis of these still often neglected or overlooked disorders...

..This overview focuses on recent advances in the genetic background of nonsyndromic HIH...

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..The LST suggests mitochondrial dysfunction in half of the ALS patients. Mitochondrial dysfunction in ALS is related to the clinical severity of the disease...

..This case shows that in a patient with PFO and migraine with aura, stroke may be attributable to migraine rather than to PFO. Occlusion of the PFO may reduce the frequency and intensity of migraine attacks...

..Many drugs exhibit their myotoxic potential only in combination with other drugs or premorbid pathologic myogenic conditions...

..Few data are available about myopathy and polyneuropathy as rare side effects of chloroquine treatment. Even more rarely are cerebrospinal fluid (CSF) abnormalities in chloroquine polyneuropathy/myopathy...

..The association of pseudotumor cerebri, visual impairment, hypothyroidism, polycystic ovary syndrome (PCOS), and a hypercoagulable state due to a factor V and a prothrombin mutation has not been reported previously...

..Complete heart block has not been reported in association with left ventricular hypertrabeculation (LVHT)/noncompaction, nail-patella syndrome (NPS), and mitochondrial myopathy (MMP)...

..The patient was suspected to additionally have a multisystem disease, most likely due to impaired oxidative metabolism. This case shows that AHC may take a mild course and be associated with a number of extracardiac abnormalities...

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..Anti-Yo antibodies may occur without the typical clinical manifestations of a NPS and may persist for years without the development of a NPS or relapse of the tumor...

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..Recent studies indicate that Notch3 gene mutations not only manifest as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) but also in the peripheral nerves and skeletal muscles...

..Physicians should familiarize with pancreatitis as a manifestation of a mitochondrial disorder and mitochondrial disorder should be excluded in patients with pancreatitis...

..The cause of troponin-T-positivity remains multi-factorial...

..AMS with neurological manifestations could be relieved only upon descent to 3,500 m. To avoid pulmonary or neurological problems at high altitude, adequate acclimatization is a prerequisite...

..Excessive muscle training may result in severe, hemodialysis-dependent rhabdomyolysis. Triggering factors may be prior low fitness level, viral infection, or subclinical metabolic myopathy...

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..During a 1-y follow-up the patient remained symptom free, despite persistently high acetylcholine-receptor antibodies. They were attributed to epitope homology of the acetylcholine receptors and Borrelia surface antigens...

..Discontinuation of these two antibiotics results in an immediate decline of the thrombocyte count to normal values within three weeks...

..Familial left ventricular hypertrabeculation (LVHT)has not been described in myotonic dystrophy type 1 (MD1)...

..Although improvement of the lid height is usually achieved, the eyelids may not appear perfectly symmetrical. In rare cases, full eyelid movement does not return. In some cases, more than one operation is required...

..The novel C59T mutation in the leader peptide of the MPZ gene is pathogenic and manifests as severe, late-onset, axonal, symmetric sensorimotor polyneuropathy (CMT2) and hyper-CK-emia...

..In conclusion, this study shows that the sensitivity, specificity, and reproducibility of the lactate stress test is high enough to warrant its application as a reliable, supplementary method to search for respiratory chain disorders...

..Polyneuropathy, myopathy and spasticity have not been described as a manifestation of a neurologic paraneoplastic syndrome (NPS) associated with anti-Yo antibodies (anti-Yo)...

..Cardiac abnormalities in DMD respond well to adequate therapy. Though DMD is ultimately a fatal disease, quality of life and life expectancy can be markedly improved if cardiopulmonary manifestations are adequately treated...

..Most likely, degeneration of the longest CNS axons is due to an impaired energy supply of the anterograde and retrograde axonal transport...

..Pseudotumour cerebri has been previously recognized as a neurological side effect of combined oral contraceptives but has not been diagnosed with a delay of 3 years after initiation of combined oral contraceptives...

..Due to its protective effect, ACE inhibitors are recommended already at the early stages of the disease. Beta-blockers may be an additional option if indicated...

..Little is known about the long-term development and outcome of cardiac involvement (CI) in patients with myotonic dystrophy type 1 (MD), Becker muscular dystrophy (BMD), and mitochondrial myopathy (MMP)...

..The patho-anatomic specimen also showed aberrant bands and false tendons, a frequent finding in hearts with LVHT. The patho-anatomic findings were in line with those of LVHT patients with or without neuromuscular disorders...

..In contrast with previously described cases, extensive endocardial calcifications were found, possibly as a result of recurrent endomyocarditis during the recurrent infections...

..Patients with atrial fibrillation (AF) have a higher mortality and risk of stroke/embolism than patients with sinus rhythm...

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..If extracardiac examinations do not reveal a plausible cause for RCMP, endomyocardial biopsy is indicated...

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..Here we describe a patient with Becker muscular dystrophy with heart failure caused by dilated cardiomyopathy in whom a BiV pacemaker was implanted...

..CSF-NSE is elevated most frequently in patients with metabolic myopathy and polyneuropathy, even in cases without CNS abnormalities...

..Although there is growing evidence for a relation between Parkinson syndrome (PS) and mitochondriopathy (MCP), little is known about the frequency of PS in MCP...

..It is concluded that respiratory chain disorders due to a complex-I defect may mimic ocular myasthenia clinically, electrophysiologically, and even therapeutically...

..This review aims to give an overview on the actual knowledge about the genetic, pathogenetic, and phenotypic implications of the A3,243G mtDNA mutation...

..In conclusion, this case demonstrates that NPS may be randomly associated with RCD. NPS patients should undergo detailed cardiological and neurological investigations, in order not to overlook a double trouble partially mimicking NPS...

..Therapy of blood cell involvement in MID comprises application of antioxidants, vitamins, iron, bone marrow-stimulating factors, or substitution of cells...

..Only few data are available about the risk of myopathy patients experiencing a cerebral stroke...

..Recurrent posterior reversible encephalopathy syndrome (PRES) has not been reported in association with multi-system mitochondrial disorder (MID)...

..Whether in the rare cases of atrial fibrillation, in whom diabetes is the only clinical risk factor, oral anticoagulation is indicated cannot be answered by the present study...

..The case shows that cardiac involvement in DMD may not only comprise rhythm abnormalities, valve abnormalities, and dilative cardiomyopathy, but also LVHT in single cases...

..Whether patients with atrial fibrillation (AF) have an increased mortality compared with the general population is controversially assessed...

..Since then PS did not recur. This case shows that HE may go along with reversible PS and prolonged VEPs. Under adequate therapy liver-function-parameters and VEPs normalize and PS disappears...

..In conclusion, high-dose intravenous fentanyl and propofol transiently discontinue unilateral, idiopathic tinnitus. The observed effect may have implications for the treatment of tinnitus...

..To assess how often mitochondrial myopathy (MMP) mimics amyotrophic lateral sclerosis (ALS) and the phenotypic similarities and differences between these two disorders...

..7 mm) and the septum (15.5 mm). In conclusion, CI in genetically confirmed FSHMD may manifest not only as ECG abnormalities but also as left ventricular myocardial thickening...

..In conclusion, long-QT syndrome does not seem to be confined to the heart but may involve the skeletal muscle subclinically as well...

..Little is known about the relation and sensitivity of macro-EMG (MA-EMG) compared with concentric-needle EMG (CN-EMG) in the detection of neuromuscular disorders...

..In conclusion, the LSTA should be preferred to the LSTR. Three lactate determinations during 15 min have no advantage over a single lactate determination after a 5 min workload of 30 W...

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..To report the elevation of the 14-3-3 protein and the complete denervation of hand muscles in idiopathic acute transverse myelitis (IATM) of the cervical cord...

..Three of the patient's transitions were also detected in blood leukocytes of the patient's maternal grandmother, mother and brother. Mutant mtDNA was heteroplasmic at >75% in the patient's skeletal muscle...

..In particular it is not known to what degree CN-MUAP variables reflect the electrical properties of a motor unit...

..Systems most often involved in RCDs were the PNS, CNS, endocrine system and heart. The diagnosis of RCD requires awareness of the great phenotypic heterogeneity and an individualized, integral, multidisciplinary approach...

..Severe hypothyroidism may be associated with highly elevated creatine kinase and myopathy. Adequate therapy leads to complete recovery, including myopathy...

..Neuromuscular disorders are rarely found as a cause of serum CK elevation in a medical department...

..The diagnosis is confirmed by demonstration of a biochemical respiratory chain defect or one of the disease-causing mutations, of which 80 % affect the mitochondrial tRNALeu gene...

..Since left ventricular hypertrabeculation/noncompaction (LVHT) is regarded a subtype of hypertrophic cardiomyopathy, we looked for the alpha-galactosidase levels in blood leukocytes of LVHT patients...

..For diagnostic, therapeutic and prognostic implications, diagnostic work-up should be carried out as soon as possible if myopathy is suspected...

..The aims of the study were to assess by echocardiography the prevalence of ILVAT, look for cardiac findings in ILVAT and find out if ILVAT is associated with neuromuscular disorders...

..ILVAT is assumed to be a cardiac manifestation of a neuromuscular disorder or a special type of a cardiomyopathy...