It can present as an idiopathic proximal myopathy with very subtle neuropathic features. Alternately, it can present with ophthalmoplegia with very subtle myopathic changes. [onlinelibrary.wiley.com]

Mitochondrial diseases are heterogeneous and multifaceted, and can present at any age. [bcmj.org]

ORPHA:521305 Classification level: Disorder Synonym(s): - Prevalence: <1 / 1 000 000 Inheritance: - Age of onset: Childhood, Adolescent, Adult ICD-10: - OMIM: 600706 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Chronic progressive weakness is the classic presentation in genetic and metabolic myopathies. [aafp.org]

Muscle fibre necrosis was only present in patient 4. [jcp.bmj.com]

• Movement Disorder

  Spectrum of movement disorders in mitochondrial diseases. [jtggjournal.com]

  In pediatric mitochondrial disease, a broad spectrum of findings may be present, including lethargy, hypotonia, failure to thrive, seizures, cardiomyopathy, deafness, blindness, movement disorder, and lactic acidosis. [bcmj.org]

• Falling

  The mitochondrial myopathies fall into 4 different categories of clinical presentation, 3 of which we will demonstrate with case reports. [onlinelibrary.wiley.com]

  Occasionally, there is no improvement in symptoms or fall in CK when the statin is stopped, and the myopathy continues to progress. This is an indication for biopsy. [musculoskeletalkey.com]

• Failure to Thrive

  In pediatric mitochondrial disease, a broad spectrum of findings may be present, including lethargy, hypotonia, failure to thrive, seizures, cardiomyopathy, deafness, blindness, movement disorder, and lactic acidosis. [bcmj.org]

• Myopathy

  […] for disease gene expression data for Proximal Myopathy with Focal Depletion of Mitochondria. [malacards.org]

  Abstract We recently evaluated two of the original three patients (siblings) diagnosed with Proximal Myopathy with Focal Depletion of Mitochondria. [pubmed.ncbi.nlm.nih.gov]

  […] for clevudine myopathy. [synapse.koreamed.org]

  MHC-class I may be up-regulated but inflammation is usually not prominent Unmasking of other myopathies Unmasking myopathies such as metabolic myopathies, inflammatory myopathies and ALS, with or without aggravation of the course Same as underlying disease [musculoskeletalkey.com]

  Significance & Innovations Mitochondrial myopathies are more common than currently appreciated. Rheumatologists are likely to see patients with mitochondrial myopathies. Patients with mitochondrial myopathies present with different syndromes. [onlinelibrary.wiley.com]

• Muscle Weakness

  Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. [aafp.org]

  Homepage Rare diseases Search Search for a rare disease Disease definition A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to [orpha.net]

  These siblings, aged 37 and 40, are cognitively normal with mild non-progressive muscle weakness and a susceptibility to rhabdomyolysis. [pubmed.ncbi.nlm.nih.gov]

  Proximal Myopathy with Focal Depletion of Mitochondria: Human phenotypes related to Proximal Myopathy with Focal Depletion of Mitochondria: 31 # Description HPO Frequency HPO Source Accession 1 elevated serum creatine kinase 31 HP:0003236 2 proximal muscle [malacards.org]

  Muscle weakness and limb numbness improved after the change or discontinuation of the drugs without special management except patient 5 who continued oral lamivudine. [jcp.bmj.com]

• Proximal Muscle Weakness

  Homepage Rare diseases Search Search for a rare disease Disease definition A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to [orpha.net]

  muscle weakness 31 HP:0003701 3 exercise-induced myalgia 31 HP:0003738 Symptoms via clinical synopsis from OMIM®: 57 (Updated 05-Apr-2021) Misc: onset in adolescence Muscle: severe myalgias after exercise mild proximal weakness Lab: elevated creatine [malacards.org]

  The previous case reports serve to demonstrate that because mitochondrial myopathies present with proximal muscle weakness, they can be mistaken for inflammatory myopathies. Clues that the patient has a mitochondrial myopathy are shown in Table 1. [onlinelibrary.wiley.com]

• Neck Weakness

  However, bulbar dysfunction or neck weakness also could appear in clevudine myopathy. Clinical symptoms of myopathy improved within 11.8 weeks after clevudine discontinuation. [synapse.koreamed.org]

• Suggestibility

  This patient's clinical course suggests that long survival is possible in some patients with mtDNA depletion. View Full Text AAN Members We have changed the login procedure to improve access between AAN.com and the Neurology journals. [n.neurology.org]

  There was a suggestion of facial weakness and mild ptosis. She experienced double vision on the extremes of lateral gaze. [onlinelibrary.wiley.com]

  This experience suggests that lamivudine/telbivudine-associated neuromyopathy can be cured by withdrawal of the drugs. [jcp.bmj.com]

  In a patient whose muscle weakness is suggestive of neurologic disease, early neuroimaging (for suspected cerebrovascular disease) or lumbar puncture (for possible meningitis, encephalitis, or multiple sclerosis) is indicated. [aafp.org]

  There are also analogies between statin myopathy and the myopathy of selenium deficiency, and it has been suggested that these drugs might inhibit selenium metabolism in muscle ( ). [musculoskeletalkey.com]

• Profound Intellectual Disability

  Individuals with this condition have early-onset muscle weakness and profound intellectual disability but share the same unique pattern on muscle biopsy as was noted in Proximal Myopathy with Focal Depletion of Mitochondria; focal depletion of mitochondria [pubmed.ncbi.nlm.nih.gov]

• Cerebellar Ataxia

  Pure cerebellar ataxia is one of the common features in Coenzyme Q10 (CoQ10) deficiency syndromes caused by different defects in biosynthetic cascade of CoQ10. [jtggjournal.com]

• Irritability

  A 44‐year‐old woman with a history of migraine headaches, vulvodynia, and irritable bowel presented with waxing and waning numbness and paresthesias of the roof of her mouth, tongue, and extremities, as well as dysgeusia, dysarthria, and blurry vision [onlinelibrary.wiley.com]

• Guillain-Barré Syndrome

  multiple sclerosis, Guillain-Barré syndrome), and neuromuscular disorders (i.e., myasthenia gravis, botulism). Localizing neurologic deficits can help the physician focus the diagnostic work-up6,10–12 (Table 36,9–12). [aafp.org]

• Paresis

  A neurologic examination that shows deficits in a single nerve or radicular distribution indicates a possible mononeuritis, entrapment neuropathy, or radiculopathy, and calls for a different workup than that required for a limb paresis in a patient with [aafp.org]

• Onset in Adolescence

  ORPHA:521305 Classification level: Disorder Synonym(s): - Prevalence: <1 / 1 000 000 Inheritance: - Age of onset: Childhood, Adolescent, Adult ICD-10: - OMIM: 600706 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

  Description HPO Frequency HPO Source Accession 1 elevated serum creatine kinase 31 HP:0003236 2 proximal muscle weakness 31 HP:0003701 3 exercise-induced myalgia 31 HP:0003738 Symptoms via clinical synopsis from OMIM®: 57 (Updated 05-Apr-2021) Misc: onset [malacards.org]

These cases have shown that it is important to know the drugs that cause myopathy such as clevudine to prevent unnecessary workup and treatments. [synapse.koreamed.org]

A neurologic examination that shows deficits in a single nerve or radicular distribution indicates a possible mononeuritis, entrapment neuropathy, or radiculopathy, and calls for a different workup than that required for a limb paresis in a patient with [aafp.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

A comparison of clevudine and entecavir for treatment-naïve patients with chronic hepatitis B: results after 2 years of treatment. Hepatol Int 2013;7:106–110. [synapse.koreamed.org]

Three patients in this retrospective study changed the treatment to entecavir, and muscle strength improved to normal as well. [jcp.bmj.com]

However, mild musculoskeletal problems may also occur independently of statin treatment ( ). [musculoskeletalkey.com]

Treatment consisted of coenzyme Q10, thiamine, lipoic acid, idebenone, and riboflavin, with marginal improvement. [onlinelibrary.wiley.com]

When present, seizures may be intractable and associated with a poor prognosis. A 10-month-old child presented with focal status epilepticus in association with a viral infection and a normal brain MRI. [bcmj.org]

These immune checkpoint inhibitors have dramatically changed the care and prognosis of many advanced cancers. [musculoskeletalkey.com]

Diagnosis begins with a patient history distinguishing weakness from fatigue or asthenia, separate conditions with different etiologies that can coexist with, or be confused for, weakness. [aafp.org]

Idiopathic inflammatory myopathies: epidemiology, classification, and diagnostic criteria. Rheum Dis Clin North Am. 2002;28:723–41. 23. Targoff IN. Laboratory testing in the diagnosis and management of idiopathic inflammatory myopathies. [aafp.org]

Endocrine system Endocrine disorders may present in childhood or may develop over time and present in adulthood.[17,18] Diabetes mellitus with a complex pathophysiology can occur. [bcmj.org]

We focus on dystonia and parkinsonism with some recent developments on the pathophysiological mechanisms of extrapyramidal features in MD and their management. [jtggjournal.com]

Reilly RF, Ellison DH (2000) Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy. Physiol Rev 80(1):277–313 CAS PubMed Google Scholar 58. Toppet M (1977) Oculocraniosomatic Neuromuscular Disease With Hypoparathyroidism. [link.springer.com]

Antiviral drug use is considered for chronic HBV infection treatment to prevent its serious sequelae. HBV is a deoxyribonucleic acid (DNA) virus. [synapse.koreamed.org]

Patients with mitochondrial disorders can receive genetic counselling to try to prevent disease transmission. However, due to the complexity of the inheritance of mtDNA this remains difficult. [link.springer.com]

Preventive Services Task Force. Ann Intern Med. 2002;136:765–76. 4. Kumar A, Clark S, Boudreaux ED, Camargo CA Jr. A multicenter study of depression among emergency department patients. Acad Emerg Med. 2004;11:1284–9. 5. Bannwarth B. [aafp.org]