Creatine kinase will be elevated. [2] Congenital Myopathies They may present at birth with marked weakness, hypotonia, external ophthalmoplegia and respiratory failure. [explainmedicine.com]

The disorder presents as progressive foot drop and hence has many differential diagnoses. [neurologyindia.com]

Early weakness of neck flexion is present in all patients. Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. [orpha.net]

However, there are several uncommon presentations and findings noticed. [karger.com]

• Epilepsy

  Metabolic Myopathy Acid maltase or acid alpha-1,4-glucosidase deficiency (Pompe's disease) Glycogen storage disorders 3-11 Carnitine deficiency Fatty acid oxidation defects Carnitine palmitoyl transferase deficiency Mitochondrial Myopathy Myoclonic epilepsy [clevelandclinicmeded.com]

  Cytopathy, Mitochondrial Myopathy, Mitochondrial Encephalomyopathy ICD 10: G731.81 Synonyme: Mitochondrial diseases with typical combinations of clinical symptoms: Kearns-Sayre syndrom, progressive external ophthalmoplegia, Pearson syndrome, myoclonic epilepsy [orphananesthesia.eu]

  Porencephaly, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Brain small vessel disease AD 58 107 COL4A2 Hemorrhage, intracerebral AD 14 12 COL6A1 Bethlem myopathy, Ullrich congenital muscular dystrophy AD/AR 81 132 COL6A2 Epilepsy [blueprintgenetics.com]

  Extensive brain abnormalities are usually accompanied by severe mental retardation, epilepsy, visual loss and reduced life expectancy (about 11 to 16 years of age). [web.archive.org]

• Difficulty Climbing Stairs

  Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance. [ghr.nlm.nih.gov]

  climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Distal amyotrophy Distal muscle wasting 0003693 Distal muscle weakness Weakness of outermost muscles 0002460 Elevated serum creatine kinase Elevated blood creatine phosphokinase [rarediseases.info.nih.gov]

  Later signs of weakness include difficulty in rising from a chair, difficulty climbing stairs and a wide gait with difficulty in balance. Q6. How is muscular dystrophy transmitted? A. [mda.org.au]

  Proximal limb muscles are the earliest and most affected Difficulty climbing stairs, lifting arms overhead, and arising from chairs. [sites.google.com]

• Respiratory Insufficiency

  In some cases muscle weakness rapidly deteriorates, finally causing respiratory insufficiency or making the patient wheelchair bound (patient 3). [jnnp.bmj.com]

  Respiratory insufficiency Advanced or severe weakness of the respiratory muscles (the diaphragm and rib cage muscles) may interfere with breathing. [web.archive.org]

  Respiratory insufficiency is the most frequent cause of mortality from AMD. [neuroweb.us]

  Hypotonia, floppy infant syndrome, respiratory insufficiency and reduced or absent deep tendon reflexes are common in early onset forms of MPP (i.e. the myopathic form of mitochondrial depletion syndrome typically due to TK2 mutations). [rarediseases.org]

  The reason why different mutations cause different muscle pathologies is not clear, but clinical syndromes overlap with most patients having a rigid spine and respiratory insufficiency. [32] CFTD 4 The most common cause is due to autosomal dominant or [emedicine.medscape.com]

• Failure to Thrive

  […] to thrive, developmental delay or regression, and dementia. [rarediseases.org]

  (HIBM-ERF; HMERF; ADMERF) 5 ● Titin (TTN) ; Chromosome 2q31.2; Dominant or Sporadic Nosology Hereditary IBM with Early Respiratory Failure Distal myopathy with Early Respiratory Failure Myofibrillar myopathy with Early Respiratory Failure Edstrom myopathy [neuromuscular.wustl.edu]

  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]

• Muscle Rigidity

  Anesthesia and muscle disease. The Am J Anesthesiol 2000;27:491-501. 6. Jones R, Delacourt JL. Muscle rigidity following halothane anaesthesia in two patients with Freeman-Sheldon Syndrome. Anaesthesiology 1992;77:599-600. 7. [ijaweb.org]

  Malignant Hyperthermia Malignant hyperthermia is a severe reaction to anesthetic agents and depolarizing muscle-blocking agents that manifests as muscle rigidity, fever, muscle necrosis, myoglobinuria, metabolic acidosis, kidney failure, and cardiac arrhythmias [clevelandclinicmeded.com]

  The infants born with this disease have poor muscle rigidity and appear to be ‘floppy’. With age, the muscle rigidity and strength may improve or worsen. Affected children may start walking later than other children. [muscleatrophy.net]

• Abdominal Pain

  View/Print Table TABLE 6 Diagnostic Clues for Muscle Weakness Finding Suggested diagnoses History Abdominal pain; excessive urination; renal stones Hypercalcemia; hyperparathyroidism Acute weakness with neurologic deficit(s) Spinal cord injury; stroke [aafp.org]

• Hypotension

  History of tuberculosis History of malignancy History of other autoimmune disease Hypotension Hyperpigmentation Auricular−cartilage calcification Vitiligo Electrolyte abnormalities Hypoglycemia Normal Normal Normal Hyperaldosteronism with myopathy [6 [wikidoc.org]

  telangiectasia; peripheral neuropathy Elevated transaminase and GGT levels; anemia; decreased vitamin B 12 Normal to elevated Normal Myopathic changes*; selected atrophy of type II muscle fibers Endocrine Adrenal insufficiency Generalized Variable Hypotension [aafp.org]

  Autonomic features are impotence and postural hypotension (most marked at times of fluid removal by dialysis). The earliest objective signs are loss of vibration at the toes and absent ankle jerks. [neuroweb.us]

• Confusion

  Since most of them manifest in infancy or early childhood they are less likely to be confused with GNE Myopathy. For details see: http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm [gne-myopathy.org]

  Abstract Favorites PDF Get Content & Permissions Open Translation and validation of the Tibetan confusion assessment method for the intensive care unit Danzeng, Qu-Zhen; Cui, Na; Wang, Hao; More Chinese Medical Journal. 132(10):1154-1158, May 20, 2019 [cmj.org]

  In its recessive form, symptoms have a later onset are usually mild; in these cases the diagnosis becomes more difficult, and there may be confusion with symptoms of other diseases associated with aging. 2 ± Please cite this article as: Maeda MY, Hashimoto [redalyc.org]

  […] characteristics of distinct clinical phenotypes (n=83) Discussion THE CLINICAL VARIANTS OF DEBRANCHER DEFICIENCY MYOPATHY On account of its phenotypic variability and the broad age range of disease onset (1 to 62 years) debrancher deficiency may be confused [jnnp.bmj.com]

  Learning that you or your child has a rare form of MD can be frightening and confusing. My parents wondered why I had this disease; we had no history of it in our family. [web.archive.org]

• Seizure

  Medications used include steroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants to delay damage to dying muscle cells. [en.wikipedia.org]

  Fukuyama congenital muscular dystrophy causes abnormalities in the brain and often seizures. Oculopharyngeal. Oculopharyngeal means eye and throat. This form of muscular dystrophy appears in men and women in their 40s, 50s, and 60s. [webmd.com]

  People with this disorder have hypotonia and seizures. Severe mental retardation and multiple vision problems are encountered. The disorder is usually lethal in infancy. [web.archive.org]

  In these cases, the muscle weakness is more severe and the child may have other problems such as fits (seizures), learning difficulties, breathing problems and a poorer outlook. [patient.info]

  […] winging, and later distal leg muscle weakness Hearing loss Retinal telangiectasias Mitochondrial myopathies 1 per 8000 population Exercise intolerance Proximal girdle muscle weakness Extraocular muscle weakness Peripheral neuropathy Migraine headaches Seizures [clevelandclinicmeded.com]

• Myoclonus

  […] arthro-ophthalmopathy Stiff-Person-Syndrom ( 3 Files ) Erkrankung: Stiff-Person-Syndrom, Stiff-Man-Syndrom ICD1 10: G25.8 Synonyme: Moersch and Woltman syndrome, stiff limb syndrome, stiff trunk syndrome, PERM (progressive encephalomyelitis with rigidity and myoclonus [orphananesthesia.eu]

  […] high in 2 patients Myopathy/Neuropathy 129 ● DNAJ/HSP40 homolog, subfamily B, member 5 (DNAJB5) ; Chromosome 9p13.3; Dominant Epidemiology: 1 patient Genetics Mutation: p.P15S DNAJB5 protein DNAJ family Other DNAJ disorders Clinical Onset age: 20 years Myoclonus [neuromuscular.wustl.edu]

  Encephalopathic features may also occur with CPEO (dementia, seizures, myoclonus and stroke-like episodes. Seizures are however much less frequent than in other mitochondrial disorders. [neuroweb.us]

• Agitation

  29 to 61 years External link: Paget disease Skeletal: Lumbar lordosis Dementia (30% to 37%) Onset Mean 52 to 54 years; Range 39 to 62 years Usually after Paget's or Myopathy Frontotemporal Language: Anomia; Aphasia; Mutism Personality change: Apathy; Agitation [neuromuscular.wustl.edu]

• Flaccid Paralysis

  Normal Meningeal signs Asymmetrical flaccid paralysis Pharyngeal paralysis Isolation from pharyngeal secretions, CSF Positive serology N/A N/A Neurological pattern Syphilis [23] Variable Negative − − − + + − − − Chancre Lymphadenopathy Condylomata lata [wikidoc.org]

  In contrast to HypoKPP, generalized flaccid paralysis is uncommon. People may get paresthesiae and achiness in the muscles prior to development of weakness. [sites.google.com]

To identify and minimize risk, a thorough preoperative workup is indispensable. [2], [3] If regional anesthesia is planned, a preoperative assessment of peripheral sensory nerve dysfunction should be considered. [ijaweb.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]

• Hypercapnia

  Within 2 days she developed respiratory failure with prominent hypercapnia and was intubated. She tolerated mechanical ventilation with marginal sedation, was able to get up and use her hands with normal skill, but was unable to breathe. [jnnp.bmj.com]

Treatment of any specific problems, such as joint stiffness (contractures), heart or breathing problems. There is a lot of research into MD at present and new treatments may be available in the future. [patient.info]

Treatment - Distal myopathy Markesbery-Griggs type Specific treatment options may include physical and occupational therapy to improve muscle strength and, when necessary, the use of various devices including braces (e.g., ankle-foot orthosis) or wheelchairs [checkorphan.org]

Management and treatment No definitive treatments for MM exist and management is mainly supportive. [orpha.net]

In acquired myopathies, treatment is targeted toward the underlying cause. Treatment of statin myopathies is dependent on creatine phosphokinase levels and degree of muscle symptoms. Consider lower doses when initiating statin therapy. [clevelandclinicmeded.com]

Gene therapy, as a treatment, is in the early stages of study in humans. [en.wikipedia.org]

Prognosis - Distal myopathy Markesbery-Griggs type Not supplied. [checkorphan.org]

Duchenne muscular dystrophy prognosis indicates death at around the age of 20 to 25. Fatal complications Duchenne muscular dystrophy prognosis indicates several fatal complications. [muscleatrophy.net]

Prognosis Life expectancy is normal. The documents contained in this web site are presented for information purposes only. [orpha.net]

Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]

Etiology It is caused by mutation of the MYH7 gene (14q11) that encodes the myosin heavy chain of type 1 fibers of skeletal muscle and cardiac ventricles (mutations have been identified in approximately 50% of individuals with MPD1). [orpha.net]

3 Dutch families Gowers (Laing; Early adult onset distal myopathy type III; MPD1) 3, 4 ● Myosin heavy chain 7 (MYH7) ; Chromosome 14q11.2; Dominant or Sporadic Epidemiology Australian, German, Italian & Austrian families Genetics: MYH7 mutations Types [neuromuscular.wustl.edu]

Summary Epidemiology MPD1 is rare, the prevalence is unknown. Clinical description Age at onset varies from 4 to 5 years to the early twenties. [orpha.net]

The pathophysiology is still unclear. Cardiac involvement may occur. [en.wikipedia.org]

The following algorithms are available in Special Instructions: -Inherited Motor Neuron Disease Testing Algorithm -Neuromuscular Myopathy Testing Algorithm Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they [mayomedicallaboratories.com]

Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances. [clevelandclinicmeded.com]

For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]

[…] following: JavaScript may be disabled or not running on your browser Your browser may appear to be an automated tool that is not allowed on Octopart You are using a VPN to access Octopart An error (please contact us so we can correct it) What can I do to prevent [octopart.com]

Also, early referral to a physiotherapist can prevent the secondary tightening of the tendo Achilles, which occurs in all patients with time. [nature.com]

TMD, Tardive tibial muscular dystrophy, UDD Myopathy, Udd distal myopathy, Udd-Markesbery muscular dystrophy, Tibial muscular dystrophy Symptoms - Distal myopathy Markesbery-Griggs type Causes - Distal myopathy Markesbery-Griggs type Prevention - Distal [checkorphan.org]

Prevention of secondary complications: Stretching exercises to prevent contractures. [ncbi.nlm.nih.gov]

This prevents it being used to make dystrophin in the muscles. This is called ‘X-linked inactivation’. [mda.org.au]