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Myopathy and Diabetes mellitus

Mitochondrial Myopathy with Diabetes


Presentation

  • The proband and his sister presented with congenital myopathy and mental retardation and subsequently developed cerebellar ataxia.[ncbi.nlm.nih.gov]
  • Epileptic seizures were also present in these cases. The cause of the seizures, however, was not described in these case reports.[em-consulte.com]
  • Fungal sinusitis in diabetics can be of different types with different pathophysiology and clinical presentation.[jpma.org.pk]
  • Muscle atrophy is present in all fiber types except in type I of slow skeletal muscle.[geronova.com]
Fatigue
  • Symptoms - Myopathy and diabetes mellitus * Dysarthria * Ataxia * Fatigue * Muscle weakness * Muscle wasting * Muscle pain * Exercise intolerance * Mental retardation Causes - Myopathy and diabetes mellitus Not supplied.[checkorphan.org]
  • This may be due to muscle cramps, muscle strains, injury, fatigue, circulatory disorders and stress.[diabeteshealthysolutions.com]
  • When they looked at myopathy, they focused on rhabdomyolysis—the most severe form—rather than on myalgia, fatigue, or other minor muscle complaints. 15 Additionally, most trials enrolled too few patients and did not have long enough follow-up to reveal[mdedge.com]
  • We applied metabolic profiling to systematically interrogate these disorders at rest, when muscle symptoms are typically minimal, and with exercise, when symptoms of premature fatigue and potential muscle injury are unmasked.[pnas.org]
  • Diabetes mellitus was diagnosed in an 18-year-old female patient when she visited a clinic due to symptoms of thirst, polyuria, polydipsia and general fatigue. Insulin therapy was thus initiated because of severe hyperglycemia at that time.[em-consulte.com]
Weight Loss
  • Symptoms of diabetes include frequent urination, feeling very thirsty and hungry (even when you are eating), feeling very tired, blurry vision, cuts and bruises that heal slowly, weight loss (even if you are eating more), and tingling, pain, or numbness[diseaseinfosearch.org]
  • Loss Testing: - Weight Testing - Body Fat Testing (BMI) - Body Fat Monitoring - Fitness Testing * Diabetes Testing: - Diabetes Tests - Blood Glucose Tests - Urine Glucose Tests - Urine Ketone Tests - Diabetes HbA1c Tests - Microalbumin Tests (Kidney)[checkorphan.org]
  • Unlike other wasting diseases, your neuropathy responds to intervention with exercise, weight loss and physical therapy. You can slow and reverse the course of diabetic amyotrophy. It is hard to deal with pain, I know.[a-diabetic-life.com]
  • Usually the patient has poor control of their diabetes and systemic symptoms such as weight loss and fatigue. The diagnosis is aided by NCS/EMG.[dartmouth.edu]
Short Stature
  • stature, cardiomyopathy, hearing loss and diabetes mellitus [ [ 1 ] ].[em-consulte.com]
  • Can also include seizures, learning disability, dementia, proximal neurogenic muscle weakness, basal ganglia abnormalities, sensorineural hearing loss, short stature, CPEO, cardiac conduction defects, obstructive sleep apnoea and neuropsychiatric disorders[nature.com]
Difficulty Climbing Stairs
  • climbing stairs 60 33 frequent (33%) Frequent (79-30%) HP:0003551 9 difficulty running 60 33 frequent (33%) Frequent (79-30%) HP:0009046 10 hyporeflexia of upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0012391 11 lower limb hyperreflexia 60 33[malacards.org]
Intravenous Administration
  • The seizures subsided after the intravenous administration of anticonvulsant drugs. Regular insulin was thereafter administered as a continuous intravenous infusion at a starting dose of 8U/h. Fluid substitution was begun with 500 ml/h saline.[em-consulte.com]
Nausea
  • She failed to comply with her insulin injection regimen at 33 years of age due to symptoms of nausea and vomiting.[em-consulte.com]
  • In blood vessels: Symptoms include: Blacking out when you stand up quickly Faster heartbeat Dizziness Low blood pressure Nausea Vomiting Feeling full sooner than normal If you have it: Avoid standing up too quickly.[webmd.com]
Polydipsia
  • Diabetes mellitus was diagnosed in an 18-year-old female patient when she visited a clinic due to symptoms of thirst, polyuria, polydipsia and general fatigue. Insulin therapy was thus initiated because of severe hyperglycemia at that time.[em-consulte.com]
Hypotension
  • The ketoacidosis and hypotension observed in our patient may promote an impairment of the cerebral autoregulatory circulation, thus resulting in stroke-like episodes associated with mitochondrial angiopathy.[em-consulte.com]
Hemianopsia
  • Epileptic seizures are the most common manifestations of MELAS and are considered to be one type of a stroke-like episode, which may also show either alternating hemiparesis, hemianopsia, or cortical blindness [ [ 1 ] ].[em-consulte.com]
Proximal Muscle Weakness
  • muscle weakness 33 HP:0003701 42 generalized hypotonia 33 HP:0001290 43 weakness of facial musculature 60 Occasional (29-5%) 44 elevated serum creatine kinase 33 HP:0003236 45 decreased activity of mitochondrial complex iv 33 HP:0008347[malacards.org]
  • Patients typically present with proximal muscle weakness of legs more than arms, with no sensory involvement.[clevelandclinicmeded.com]
  • muscle weakness, generalized muscle wasting, respiratory deficiency, chronic renal failure, cardiac arrhythmias and depression 24 DNA2, which encodes DNA replication ATP-dependent helicase/nuclease DNA2 Progressive myopathy 205 RNASEH1, which encodes[nature.com]
  • Symmetrical proximal muscle weakness with absence of sensory symptoms (paraesthesia). Atrophy of muscles (and reduced reflexes) occurs late with myopathies (early with neuropathy).[patient.info]
  • Hyperparathyroidism does not cause tetany but results in muscle wasting and myopathy (ie, proximal muscle weakness). The pathophysiology is oversecretion of hormone, frequently from a parathyroid adenoma.[emedicine.medscape.com]
Polyuria
  • Diabetes mellitus was diagnosed in an 18-year-old female patient when she visited a clinic due to symptoms of thirst, polyuria, polydipsia and general fatigue. Insulin therapy was thus initiated because of severe hyperglycemia at that time.[em-consulte.com]
Ataxia
  • The proband and his sister presented with congenital myopathy and mental retardation and subsequently developed cerebellar ataxia.[ncbi.nlm.nih.gov]
  • […] occasional (7.5%) Occasional (29-5%) HP:0003326 16 pelvic girdle muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003749 17 intellectual disability, moderate 60 33 occasional (7.5%) Occasional (29-5%) HP:0002342 18 progressive cerebellar ataxia[malacards.org]
  • Symptoms - Myopathy and diabetes mellitus * Dysarthria * Ataxia * Fatigue * Muscle weakness * Muscle wasting * Muscle pain * Exercise intolerance * Mental retardation Causes - Myopathy and diabetes mellitus Not supplied.[checkorphan.org]
  • […] referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)) Sensory axonal neuropathy with variable sensory and cerebellar ataxia Myoclonic epilepsy myopathy sensory ataxia (MEMSA[nature.com]
  • Spinocerebellar ataxia 2 (ATXN2) Spinocerebellar ataxia 3 (ATXN3) Spinocerebellar ataxia 6 (CACNA1A) Spinocerebellar ataxia 7 (ATXN7) HEREDITARY CARDIOMYOPATHIES Cardiomyopathy, familial hypertrophic (CAV3) Dilated cardiomyopathy, 1I (DES) Cardiomyopathy[meduniwien.ac.at]
Cerebellar Ataxia
  • The proband and his sister presented with congenital myopathy and mental retardation and subsequently developed cerebellar ataxia.[ncbi.nlm.nih.gov]
  • ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002073 19 frequent falls 60 33 occasional (7.5%) Occasional (29-5%) HP:0002359 20 peripheral axonal neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003477 21 distal lower limb amyotrophy[malacards.org]
  • Can also include deafness, diabetes mellitus, pigmented retinopathy, cardiomyopathy, cerebellar ataxia, seizures, encephalopathy, lactic acidosis and mitochondrial myopathy 31, 75, 76 Myoclonic epilepsy with ragged red fibres (MERRF) Mutations in mtDNA[nature.com]
  • Although our patient did not show epileptic seizure at first episode of diabetic ketoacidosis, we supposed that cerebellar ataxia at first diabetic ketoacidosis might be also stroke-like episodes since MRI obtained at the age of 29 demonstrated hyperintensity[em-consulte.com]
Dysarthria
  • Symptoms - Myopathy and diabetes mellitus * Dysarthria * Ataxia * Fatigue * Muscle weakness * Muscle wasting * Muscle pain * Exercise intolerance * Mental retardation Causes - Myopathy and diabetes mellitus Not supplied.[checkorphan.org]
  • 0009046 10 hyporeflexia of upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0012391 11 lower limb hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0002395 12 shoulder girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003547 13 dysarthria[malacards.org]
  • […] and ophthalmoplegia (SANDO)) Sensory axonal neuropathy with variable sensory and cerebellar ataxia Myoclonic epilepsy myopathy sensory ataxia (MEMSA; previously referred to as spinocerebellar ataxia with epilepsy (SCAE)) Epilepsy, PEO, seizures, dysarthria[nature.com]
  • […] labor-related complications Eyelid ptosis without extraocular muscle weakness Oculopharyngeal muscular dystrophy Relatively rare Rarely presents with distal muscle weakness Mainly manifests with ophthalmoparesis and with bulbar weakness manifesting with dysarthria[clevelandclinicmeded.com]
Numbness of the Hand
Babinski Sign
  • 1 type i diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0100651 2 proximal amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007126 3 skeletal myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003756 4 babinski sign 60[malacards.org]
  • For example, the arms may show more lower motor neuron signs (atrophy and fasciculations) while the legs may show more upper motor neuron signs (spasticity, increased reflexes and Babinski sign).[dartmouth.edu]

Workup

  • We recommend that a muscle biopsy is performed in the workup of a patient suspected of having IIM whenever possible as there are reported cases of non-inflammatory myopathies that can mimic IIM. 19 One factor contributing to the low rate of muscle biopsy[nzma.org.nz]
Glycosuria
  • A urinalysis disclosed overt ketonuria and glycosuria. The seizures subsided after the intravenous administration of anticonvulsant drugs. Regular insulin was thereafter administered as a continuous intravenous infusion at a starting dose of 8U/h.[em-consulte.com]
Ketonuria
  • A urinalysis disclosed overt ketonuria and glycosuria. The seizures subsided after the intravenous administration of anticonvulsant drugs. Regular insulin was thereafter administered as a continuous intravenous infusion at a starting dose of 8U/h.[em-consulte.com]
Glucose Decreased
  • The arterial pH rose to 7.29, the plasma bicarbonate level increased to 10.3 mmol/l, while the plasma glucose decreased to 15.7 mmol/l 4 hours later. The elevated serum b -hydroxybutyrate was reduced in parallel to the increase of arterial pH.[em-consulte.com]

Treatment

  • Talk with your doctor if you have been diagnosed with myopathy and diabetes mellitus to find the best treatment option for you.[diseaseinfosearch.org]
  • Treatment - Myopathy and diabetes mellitus Not supplied. Resources - Myopathy and diabetes mellitus Not supplied.[checkorphan.org]
  • The main treatments for more advanced diabetic retinopathy are: laser treatment injections of medication into your eyes an operation to remove blood or scar tissue from your eyes Read more about the treatment of diabetic retinopathy.[nhs.uk]
  • Laser surgery is often used in the treatment of diabetic eye disease, but each stage of diabetic retinopathy can be treated in a different way. Background retinopathy has no treatment but patients will need regular eye examinations.[diabetes.co.uk]

Prognosis

  • Body Fat Monitoring - Fitness Testing * Diabetes Testing: - Diabetes Tests - Blood Glucose Tests - Urine Glucose Tests - Urine Ketone Tests - Diabetes HbA1c Tests - Microalbumin Tests (Kidney) - Urine Protein Tests (Kidney) - Kidney Tests - Eye Tests Prognosis[checkorphan.org]
  • The prognosis is generally favorable-the kitten depicted was experiencing dietary deficiency and recovered after overnight treatment with intravenous fluids containing potassium chloride.[cliniciansbrief.com]
  • Prognosis This depends on the specific diagnosis. The primary disorders are incurable conditions with varied prognosis. Secondary myopathy may be corrected by treating the underlying cause.[patient.info]
  • Emphysematous pyelonephritis: clinicoradiological classification, management, prognosis, and pathogenesis. Arch Intern Med. 2000;160:797-805. 13. Sunnapwar A, Raut AA, Nagar AM, Katre R.[jpma.org.pk]
  • In cases suspected to be a primary inflammatory myopathy, specific autoantibodies can be considered to determine the prognosis and rule out associated conditions.[clevelandclinicmeded.com]

Etiology

  • Myopathy is a common term for a muscle disease that is unrelated to any disorder of innervation or neuromuscular junction, with a wide range of possible etiologies.[news-medical.net]
  • When soft drink ketosis complicated by marked hypokalemia is observed in patients with diabetes, the excessive intake of caffeine-containing beverages should be suspected as a possible etiology.[jstage.jst.go.jp]
  • Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures.[clevelandclinicmeded.com]
  • The etiologies of hyperadrenalism include pituitary or ectopic overproduction of adrenocorticotropic hormone (ACTH), adrenal tumors, or exogenous corticosteroid administration.[emedicine.medscape.com]
  • To the Editor, Myopathy or myositis in cancer patients can be related with a number of etiologies. Inflammatory myositis is the primary disease entity of concern.[kjim.org]

Epidemiology

  • […] collaborate analysis of diabetic criteria in AsiaDECODA研究 Diabetes epidemiology collaborate analysis of diabetic criteria in EuropeDECODE研究 Diabetes epidemiology research internationalDERI研究 Diabetes mellitus due to other specific mechanisms or disease[jds.or.jp]
  • Epidemiology These are all relatively uncommon diseases: Duchenne muscular dystrophy is easily the most common childhood-onset muscular dystrophy and affects 1 in 3,300 boys. [ 6 ] The prevalence of Duchenne muscular dystrophy is 63 cases per million.[patient.info]
  • Polymyalgia rheumatica (PMR) and temporal arteritis (TA): Although research is just beginning, Imrich and colleagues note that age-related changes in the neuroendocrine system could represent a pathogenic factor for PMR and/or TA in genetically disposed. [5] Epidemiology[emedicine.medscape.com]
  • Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness[clevelandclinicmeded.com]
  • Prevention of heart failure: a scientific statement from the American Heart Association Councils on Epidemiology and Prevention, Clinical Cardiology, Cardiovascular Nursing, and High Blood Pressure Research; Quality of Care and Outcomes Research Interdisciplinary[jaha.ahajournals.org]
Sex distribution
Age distribution

Pathophysiology

  • Steroid myopathy is the most common endocrine myopathy. [1] Pathophysiology Although abnormal endocrine states usually present with muscle weakness—most often proximal weakness—the exact pathophysiology remains incompletely understood.[emedicine.medscape.com]
  • Reference work entry First Online: 05 February 2016 DOI: 10.1007/978-3-540-29807-6_263 Synonyms Definition Diabetic myopathy refers to the broad spectrum of pathophysiological alterations to skeletal muscle in response to the diabetic biochemical, hormonal[link.springer.com]
  • The pathophysiology of stroke-like episodes in MELAS is still not well understood.[em-consulte.com]
  • New insights into pathophysiology and treatment. Muscle Nerve, 25, 477–491. Courtney, A. E., McDonnell, G. V., Patterson, V. H. (2001). Human Immunoglobulin for Diabetic Amyotrophy- a Promising Prospect? Postgraduate Medical Journal, 77, 326–328.[en.wikipedia.org]
  • Fungal sinusitis in diabetics can be of different types with different pathophysiology and clinical presentation.[jpma.org.pk]

Prevention

  • Prevention - Myopathy and diabetes mellitus Not supplied.[checkorphan.org]
  • Are there any ways to prevent diabetic retinopathy? Long-term good blood glucose level management helps to prevent diabetes retinopathy and lower the risk of developing it.[diabetes.co.uk]
  • To prevent retinopathy with diabetes, have your eye doctor screen your eyes annually.[medicinenet.com]
  • Prevention You can't always prevent diabetic retinopathy. However, regular eye exams, good control of your blood sugar and blood pressure, and early intervention for vision problems can help prevent severe vision loss.[mayoclinic.org]
  • But you can prevent and even reverse it. Diabetic proximal neuropathy is only one of the diabetic neuropathies. Like all the others it is the result of long-term high blood sugar.[a-diabetic-life.com]

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