Presentation
Individual case presentations provide a valuable tool for differential diagnosis. [books.google.com]
Here we present a case of severe muscle weakness due to vitamin D deficiency, which rendered the patient wheel chair bound. [chanrejournals.com]
Depending on the underlying defect, some patients may present in infancy or early childhood, whereas others may not present until well into adulthood. [the-rheumatologist.org]
Amjath Ali, Medical student at Teaching Hospital, Batticaloa Published on Mar 11, 2014 This presentation will give a brief idea on proximal myopathy, causes, clinical presentation, history and physical examination, investigations to diagnose the disease [slideshare.net]
We present here two cases of vitamin D deficiency-induced myopathy. [jmedicalcasereports.biomedcentral.com]
Gastrointestinal
- Failure to Thrive
The first indication of a problem is a failure to thrive. The rate of growth and mental progress of the baby stops at a certain point and does not continue normally. The liver and spleen enlarge. [annalsofneurosciences.org]
Childhood form presents with liver disease Andersen's disease (glycogenosis type IV) caused by a deficiency of branching enzyme characterized by failure to thrive, hepatomegaly from polysaccharide accumulation, cirrhosis, liver failure. [sites.google.com]
Musculoskeletal
- Myopathy
Metabolic myopathies may be often accompanied by secondary hypovitaminosis D. Muscle biopsies can help in differentiating HDM from other myopathies. [chanrejournals.com]
Abstract Distal myopathies are inherited primary muscle and may be caused by defects in structural components of the sarcomere. We present a family with a distal myopathy secondary to a mutation in myotilin. [eprints.soton.ac.uk]
Key words: secondary myopathy, juvenile rheumatoid arthritis. Dudnyk V. M., Bereznyckyi O. V., Vyzhga Yu. V. Monitoring of the treatment effect of the secondary myopathy syndrome in patients with juvenile rheumatoid arthritis. [zenodo.org]
Myopathy due to magnesium deficiency Myopathy due to polyarteritis nodosa Myopathy in myasthenia gravis Nutritional myopathy Potassium depletion myopathy Primary familial amyloid myopathy Primary sporadic amyloid myopathy Secondary myopathy Secondary [icdlist.com]
Muscle manifestations in these categories include pathogen-caused myositis, muscle infarction, rhabdomyolysis, myasthenia, immune-mediated myositis, necrotising myopathy, or vasculitis-associated myopathy. [ncbi.nlm.nih.gov]
- Muscle Weakness
The major clinical features of nemaline myopathy are muscle weakness, hypotonia and reduced or absent reflexes. Muscle weakness is usually most severe in muscles of the face, neck and proximal muscles. [rarediseases.org]
The weakness usually occurs in proximal muscles and it is often minimal and subclinical. Here we present a case of severe muscle weakness due to vitamin D deficiency, which rendered the patient wheel chair bound. [chanrejournals.com]
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]
(intrinsics), the muscle weakness is distal. [aafp.org]
Polymyositis causes muscle weakness, usually in the muscles closest to the trunk of your body. Dermatomyositis causes muscle weakness, plus a skin rash. [icdlist.com]
- Muscle Spasticity
Caring for muscle spasticity or spasms (Medical Encyclopedia) Compartment syndrome (Medical Encyclopedia) Contracture deformity (Medical Encyclopedia) Creatine phosphokinase test (Medical Encyclopedia) Electromyography (Medical Encyclopedia) Eyelid twitch [icdlist.com]
Face, Head & Neck
- Myopathic Facies
Drooling, tearing, sleep with eyes open, myopathic facies, inability to whistle, blow balloons Difficulty chewing, jaw weakness Tongue weakness - dysarthria, dysphagia, swallowing problems, pocketing food, difficulty dislodging food between cheek and [sites.google.com]
Neurologic
- Peripheral Neuropathy
Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes [books.google.com]
Congenital hypomyelinating neuropathies. It may be difficult to distinguish myopathy from peripheral neuropathy. [patient.info]
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 CNS [clevelandclinicmeded.com]
Peripheral nerve damage (peripheral neuropathy) Peripheral neuropathy generally appears in one of three patterns that can be distinguished clinically. [dartmouth.edu]
Peripheral neuropathy; radiculopathy Diffuse Central Amyotrophic lateral sclerosis Peripheral Guillain-Barré syndrome; polyneuropathy Orthostatic hypotension; skin bronzing Hypoadrenalism TABLE 6 Diagnostic Clues for Muscle Weakness Finding Suggested [aafp.org]
- Dysarthria
Some infants may have an abnormal waddling walk (gait), swallowing difficulties (dysphagia), speech difficulties (dysarthria), and a nasal tone to the voice. [rarediseases.org]
Other features include nasal dysarthria, weakness of the orbicularis oculi, and proximal limb weakness. Weakness of extra-ocular muscles is rare (145). Both the levator and Muller’s muscle are involved pathologically (146). [neuroophthalmology.ca]
[…] 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]
Pharyngeal weakness results in dysphagia, dysphonia, and dysarthria. [sites.google.com]
- Tremor
Onset is shortly after birth and affected infants may have hypotonia, multiple contractures, and tremors, which usually diminish over the first few months of life. [rarediseases.org]
[…] uremia Normal Myopathic MUAPs‡ Atrophy of type II muscle fibers; increased lipofuscin beneath cell membrane; calcium deposits in muscle Thyroid hormone (hyperthyroidism) Proximal, bulbar 40 to 49 years Weight loss; tachycardia; increased perspiration; tremor [aafp.org]
Clinical features against a myopathy Distal weakness (may be seen in myotonic dystrophy-type 1) Fasciculations Tongue atrophy Tremor Sensory symptoms and signs Pathological fatigue: suggest NMJ d/o Early absence of reflexes Is it an abnormality in the [sites.google.com]
- Guillain-Barré Syndrome
[…] should be considered in patients with associated risk factors or symptoms. 6, 9 Neurologic conditions that can cause weakness include cerebrovascular disease (i.e., stroke, subdural/epidural hematomas), demyelinating disorders (i.e., multiple sclerosis, Guillain-Barré [aafp.org]
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]
- Steppage Gait
High steppage gait or slapping feet. Ankle plantarflexion weakness - cannot tip toe walk. [sites.google.com]
Workup
Because these symptoms may be nonspecific and lack any clear temporal or anatomic pattern, their workup may entail costly and uninformative tests. [the-rheumatologist.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]
Secondary: Postradiation neck extensor myopathy, Anterior scar contracture, Postbotulinum toxin injection, Cushing syndrome, Carnitine deficiency, Hypothyroidism, Hypokalemia, Hyperparathyroidism Other : Malignancy, Postsurgical Diagnostic Workup of Dropped [sites.google.com]
Treatment
Over the course of 2 weeks and six hemodialysis treatments, the patient’s renal status failed to improve. [journalmc.org]
Features coverage of the latest treatment innovations including antibiotic residue testing, care of individual metabolic disease, troubleshooting, and much more. [books.google.com]
We provided examination of 43 patients with JRA to monitor effect of the treatment. [zenodo.org]
Treatment of muscle involvement in systemic diseases is based on elimination of the underlying cause and supportive measures. [ncbi.nlm.nih.gov]
Prognosis
Prognosis of secondary muscle disease in systemic diseases is usually fair if the underlying condition is accessible to treatment. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. [ncbi.nlm.nih.gov]
The patient finally refused any further hemodialysis or medical interventions seeing that her kidneys failed to respond to treatment, and her clinical prognosis remained poor. [journalmc.org]
In addition, correlations are emerging between some genotypes and the clinical phenotype or prognosis. [err.ersjournals.com]
[…] subgroup analysis suggests that intensive insulin therapy/tight glucose control may reduce the incidence but not generally recommended simply to prevent ICU acquired weakness early mobilization Treatment no specific treatment treat underlying condition Prognosis [aic.cuhk.edu.hk]
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]
Etiology
Code First Code First Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10data.com]
Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]
The number of conditions leading to some form of myopathy is quite large, thus in a broad sense, the definition of myopathy should include “any” condition that results in functional muscle deficits regardless of the etiology. [link.springer.com]
The etiologies of hyperadrenalism include pituitary or ectopic overproduction of adrenocorticotropic hormone (ACTH), adrenal tumors, or exogenous corticosteroid administration. [emedicine.medscape.com]
Partial response to therapy in GER should prompt search for an underlying secondary etiology. [annalsofian.org]
Epidemiology
[…] doi: 10.1097/BOR.0000000000000024 EPIDEMIOLOGY AND HEALTH-RELATED SERVICES: Edited by Allan C. [journals.lww.com]
Updated February 2015 by Charles Gomersall Difficult to distinguish between critical illness polyneuropathy and critical illness myopathy and it may be preferable to group the two together as ICU acquired weakness Epidemiology occurs in 25-63% of patients [aic.cuhk.edu.hk]
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]
Epidemiology including risk factors and primary prevention Baseline risk factors for toxic myopathy include: Decreased ability to metabolize or excrete a drug and its metabolites Hepatic or renal failure Older adults Infants/children Concomitant use of [now.aapmr.org]
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]
Pathophysiology
Overall, the underlying pathophysiological mechanisms of SAMS is still largely unknown. [epccs.eu]
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]
The exact pathophysiologic mechanisms are not fully known. [now.aapmr.org]
[…] common in females associated with: sepsis, SIRS multiorgan dysfunction neuromuscular blocking agents corticosteroids (in some but not all studies) hyperglycaemia (independent factor in one trial) cytotoxics status asthmaticus with neuromuscular blockade Pathophysiology [aic.cuhk.edu.hk]
Many drugs can cause a myopathy. 1 – 10 The pathophysiological mechanisms are diverse and, in many instances, unclear. Medications can have either a direct or an indirect adverse effect on muscle. [neurology.mhmedical.com]
Prevention
Revised drug usage recommendations and legal considerations present the most current information in these critical areas to help you prevent dangerous or costly errors. [books.google.com]
Is It Possible to Prevent Cardiomyopathy? Cardiomyopathy is a term that describes the end result of many diseases and illnesses. [emedicinehealth.com]
[…] subgroup analysis suggests that intensive insulin therapy/tight glucose control may reduce the incidence but not generally recommended simply to prevent ICU acquired weakness early mobilization Treatment no specific treatment treat underlying condition [aic.cuhk.edu.hk]
[…] can prevent serious complications. [uspharmacist.com]
Because patients taking prednisone are at risk for osteoporosis, they should receive proper treatment to prevent it. [rheumatology.org]