Presentation
The proband and his sister presented with congenital myopathy and mental retardation and subsequently developed cerebellar ataxia. [ncbi.nlm.nih.gov]
Neonatal, Infancy, Childhood, Adolescent, Adult ICD-10: G71.3 OMIM: 500002 UMLS: C1839028 MeSH: - GARD: 3881 MedDRA: - A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) The documents contained in this web site are presented [orpha.net]
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]
Entire Body System
- Fatigue
This may be due to muscle cramps, muscle strains, injury, fatigue, circulatory disorders and stress. [diabeteshealthysolutions.com]
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]
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]
[…] ribonucleotide-diphosphate reductase subunit M2B Hearing loss, bulbar dysfunction, renal disease and gastrointestinal disturbance 200 C10orf2, which encodes Twinkle protein Isolated PEO with or without mild proximal myopathy and exercise intolerance, fatigue [nature.com]
Gastrointestinal
- Failure to Thrive
Childhood-onset mitochondrial diseases Leigh syndrome >75 genes in nDNA and mtDNA Acute periods of neurodevelopmental regression followed by partial recovery, hypotonia, dystonia, hypopnoea, dysphagia, epilepsy, failure to thrive, encephalopathy, and [nature.com]
- Dyspepsia
[…] cuff) Cervical spondylosis Gout Disc protrusion 11 (55) 4 3 1 1 1 1 72 Cardiovascular Hypertension IHD Arrhythmia CHF Valvular disease 10 (50) 5 3 1 1 1 65 Renal CRF Proteinuria Eosinophilic nephritis BPH 9 (45) 5 2 1 1 59 Gastrointestinal Gastritis/dyspepsia [nzma.org.nz]
- 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]
Eyes
- Blurred Vision
However, bleeding can reoccur and cause severely blurred vision. You need to be examined by your eye care professional at the first sign of blurred vision, before more bleeding occurs. [medicinenet.com]
As the condition progresses, diabetic retinopathy symptoms may include: Spots or dark strings floating in your vision (floaters) Blurred vision Fluctuating vision Impaired color vision Dark or empty areas in your vision Vision loss Diabetic retinopathy [mayoclinic.org]
Symptoms may only become noticeable once the disease advances, but the typical symptoms of retinopathy to look out for include: Sudden changes in vision / blurred vision Eye floaters and spots Double vision Eye pain Read more about the symptoms of diabetic [diabetes.co.uk]
Skin
- Skin Ulcer
E10622Type 1 diabetes mellitus with other skin ulcer E10628Type 1 diabetes mellitus with other skin complications E10630Type 1 diabetes mellitus with periodontal disease E10638Type 1 diabetes mellitus with other oral complications E10649Type 1 diabetes [cms.gov]
ulcer糖尿病性皮膚潰瘍 diabetic skin ulcer糖尿病皮膚潰瘍 diabetic thick skin糖尿病性皮膚硬化症 diabetic thick skin糖尿病皮膚硬化症 diabetic triopathyトリオパチー diabetic triopathy糖尿病三大合併症 diabetic type糖尿病型 diabetic ulcer糖尿病性潰瘍 diabetic ulcer糖尿病潰瘍 diabetogenesis催糖尿病発症 diabetogenesis糖尿病発生 [jds.or.jp]
Musculoskeletal
- Proximal Muscle Weakness
[…] fibers 33 HP:0003200 38 mitochondrial myopathy 33 HP:0003737 39 motor delay 33 HP:0001270 40 hyporeflexia 33 HP:0001265 41 proximal muscle weakness 33 HP:0003701 42 generalized hypotonia 33 HP:0001290 43 weakness of facial musculature 60 Occasional [malacards.org]
Peripheral neuropathy Graves’ ophthalmopathy, extraocular muscle weakness Sarcoidosis myopathy Asymptomatic muscle involvement in ≤50% sarcoidosis patients Symmetrical proximal muscle weakness Focal muscle weakness from sarcoid granuloma Peripheral neuropathy [clevelandclinicmeded.com]
Parkinsonism 197 DGUOK, which encodes deoxyguanosine kinase Exercise intolerance, limb girdle weakness, muscle cramps and occasional dysphagia 198 TK2, which encodes thymidine kinase 2 Ptosis, scapular winging, facial and proximal muscle weakness and [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]
PMID: 19534335 High Prevalence of Hypovitaminosis D in Patients Presenting with Proximal Muscle Weakness: A Sub-Himalayan Study. Mokta J, Balraj, Mokta K, Ranjan A, Joshi I, Garg M. Mokta J, et al. J Assoc Physicians India. 2017 Nov;65(11):55-58. [pubmed.ncbi.nlm.nih.gov]
Neurologic
- Hyporeflexia
0003546 7 progressive proximal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009073 8 difficulty 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 [malacards.org]
- Guillain-Barré Syndrome
Differential diagnosis This list includes other conditions causing weakness: Guillain-Barré syndrome. Lambert-Eaton myasthenic syndrome. Myasthenia gravis. Cerebral palsy. Spinal muscular atrophy. Congenital hypomyelinating neuropathies. [patient.info]
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]
Serum
- 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
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]
You may need treatment before more serious bleeding occurs. Hemorrhages tend to happen more than once, often during sleep. Sometimes, without treatment, the spots clear, and you will see better. [medicinenet.com]
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]
Technology - Pharmacologic Treatment of Diabetes or its Complications [professional.diabetes.org]
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]
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: https://doi.org/ 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 [link.springer.com]
The pathophysiology of stroke-like episodes in MELAS is still not well understood. [em-consulte.com]
Fungal sinusitis in diabetics can be of different types with different pathophysiology and clinical presentation. [jpma.org.pk]
Prevention
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]
Prevention - Myopathy and diabetes mellitus Not supplied. [checkorphan.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]