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]

• 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 kinase large areas [malacards.org]

  (intrinsics), the muscle weakness is distal. [aafp.org]

  Weakness gradually progressing to nadir took 8.6 ± 7.5 months in our seven patients. The common presenting symptom was extremity weakness. Weakness involved the lower and upper extremities in 98.9% and 75.9% of the patients, respectively. [synapse.koreamed.org]

  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]

  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]

• Pain

  Cited by 3 articles Acupuncture alleviates chronic pain and comorbid conditions in a mouse model of neuropathic pain: the involvement of DNA methylation in the prefrontal cortex. [pubmed.ncbi.nlm.nih.gov]

  Severe hypokalaemia can also lead to necrosis and an acute painful myopathy. [musculoskeletalkey.com]

  Arthralgia; malaise; myalgia; respiratory symptoms Epstein-Barr virus; HIV; influenza Chronic neck or back pain, with or without sharp shooting pains Cervical spondylosis; degenerative disc disease Distal weakness Genetic distal myopathies; inclusion [aafp.org]

  He gave up weight lifting, and over time had difficulty maintaining employment as his weakness and muscle pain progressed. [onlinelibrary.wiley.com]

  Three patients also complained of muscle pain (patients 1, 2 and 6). Three patients were accompanied with numbness in distal end of limbs (patients 1, 3 and 5). [jcp.bmj.com]

• Disability

  Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery. [orpha.net]

  Thus the phenotypic spectrum of CHKB mutations ranges from a congenital muscular dystrophy with intellectual disability to a later-onset non-progressive muscular weakness with normal cognition. [pubmed.ncbi.nlm.nih.gov]

  Martikainen et al.[8], 2016 PDHX PDH deficiency Generalized dystonia with childhood onset Seizures, learning disability, deafness Martikainen et al.[8], 2016 TIMM8a Defect of mitochondrial protein import Dystonia with childhood onset Early deafness, [jtggjournal.com]

• 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

  (intrinsics), the muscle weakness is distal. [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]

  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 kinase [malacards.org]

  All six patients developed progressive muscle weakness in 1–2 years after initiation of lamivudine or telbivudine therapy. Three patients also complained of muscle pain (patients 1, 2 and 6). [jcp.bmj.com]

• 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 kinase large areas of about one-third of type ii muscle [malacards.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]

  Lower doses cause myalgia and fatigue. Recovery occurs following drug withdrawal, over 1–2 months. [musculoskeletalkey.com]

  Exertional myalgia Exertional myalgia is a common presenting symptom of mitochondrial disease, especially in adults. A 40-year-old man presented with exertional myalgias dating back to the age of 14. [bcmj.org]

  Keywords: CHKB; Megaconial muscular dystrophy; Mitochondrial depletion; Myalgia; Oligomitochondria; Rhabdomyolysis. Copyright © 2015 Elsevier B.V. All rights reserved. [pubmed.ncbi.nlm.nih.gov]

• 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]

  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 kinase large areas of about one-third of type ii muscle fibers [malacards.org]

  A 39‐year‐old man presented with a 7‐year history of progressive muscle weakness, pain and spasms in his muscles with exertion, and decreased stamina. [onlinelibrary.wiley.com]

• Torticollis

  Interestingly, adult-onset focal dystonia (torticollis and writer’s cramp) with no evidence of hearing impairment has been reported in female carriers[35]. [jtggjournal.com]

• Dysarthria

  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]

  Recently, a review of published data on patients harboring the m.10197G > A mutation showed that 38% of patients had a stable dystonia associated with ataxia, seizures, and dysarthria. [jtggjournal.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]

• 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]

• Akinesia

  > A A359T Asymmetrical tremor and akinesia, rigidity PEO, neuropathy Kiferle et al.[76] 2013 c.1031G > A R334Q Asymmetrical tremor, akinesia, rigidity PEO, neuropathy Vandenberghe et al.[75] 2009 c.1121G > A R374Q Asymmetrical akinesia, rigidity, tremor [jtggjournal.com]

• 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]

  […] in adolescence Muscle: severe myalgias after exercise mild proximal weakness Lab: elevated creatine kinase large areas of about one-third of type ii muscle fibers devoid of mitochondria with remaining mitochondria unusually large Clinical features from [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]

• MRI Shows Cerebellar Atrophy

  Brain MRI usually reveals a pure cerebellar atrophy as a prominent feature[105]. [jtggjournal.com]

• Liver Biopsy

  Liver biopsy revealed cirrhosis with no other findings specific for a distinct cause. [bcmj.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]