Presentation
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]
Immune System
- Splenomegaly
[…] without cysteamine treatment Onset Age: 1st year to Adult Failure to thrive: 1st year Skeletal: Short stature; Frontal bossing; Hypophosphatemic rickets Eyes: Retinopathy; Corneal cysteine crystals GI: Not frequent Hepatomegaly; Pancreatic insufficiency; Splenomegaly [neuromuscular.wustl.edu]
Entire Body System
- 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]
- Surgical Procedure
In advanced cases, a nonsurgical procedure called throat stretching or a surgical procedure called a cricopharyngeal myotomy may be warranted. Tube feeding is another option for advanced cases. [web.archive.org]
Individuals monitored on nocturnal ventilation did not have to undergo tracheostomy, a surgical procedure where a hole is made in the wind pipe to aid breathing. Few patients reported to experience fatigue during the day. [muscleatrophy.net]
Musculoskeletal
- Myalgia
Swelling Tender Erythema and induration Alcohol intoxication Change in mental status Telangiectasia Peripheral neuropathy Monspecific and are normal in many patients Normal or ↑↑ Normal Normal Organ system Disease Age of onset Muscle weakness Fever Myalgia [wikidoc.org]
Symptoms can range from mild cramps to more-severe myalgias, pain, and weakness. Rhabdomyolosis has also been reported in rare cases. [clevelandclinicmeded.com]
Exercise-induced myalgia and aching discomfort in the calves can be an early symptom. Anterior compartment muscles of the distal lower extremities eventually become weak as well. [orpha.net]
HyperCKemia and myalgia are a common presentation of Anoctamin-5 (ANO5)-related myopathy in French patients. Papadopoulos C, Laforêt P, Nectoux J, et al. Muscle & Nerve, 2017, Epub, 19 p. [myobase.org]
- Foot Deformity
Symptoms vary and may include: muscle weakness poor motor control inability to sit or stand without support scoliosis foot deformities trouble swallowing respiratory problems vision problems speech problems intellectual impairment While symptoms vary [healthline.com]
Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet. [gne-myopathy.org]
deformity and scoliosis Use of respiratory aids when indicated Social and emotional support Because dysferlinopathies are progressive conditions, rehabilitative interventions should be focused on slowing down the of muscle weakness and wasting progression [rarediseases.info.nih.gov]
Occasionally, leg weakness may involve the anterior compartment and cause foot drop [ Illa et al 2001 ]. Elevated serum CK concentration only. Some individuals have only a marked elevation of serum CK concentration. [ncbi.nlm.nih.gov]
deformity (50%) Hearing loss (30% to 100%): Onset after weakness Cardiac: Normal Laboratory Serum CK: Normal to mildly high (< 2.5-fold high) EMG: Denervation, More distal Fibrillations Motor unit potentials: Large Recruitment: Reduced NCV Velocities [neuromuscular.wustl.edu]
Neurologic
- Stroke
Acute onset may indicate infection or stroke. Subacute onset may implicate drugs, electrolytes, or inflammatory or rheumatologic disease. Chronic progressive weakness is the classic presentation in genetic and metabolic myopathies. [aafp.org]
In terms of research within the United States, the primary federally funded organizations that focus on muscular dystrophy research, including gene therapy and regenerative medicine, are the National Institute of Neurological Disorders and Stroke, National [en.wikipedia.org]
[…] disease) Glycogen storage disorders 3-11 Carnitine deficiency Fatty acid oxidation defects Carnitine palmitoyl transferase deficiency Mitochondrial Myopathy Myoclonic epilepsy and ragged red fibers (MERRF) Mitochondrial myopathy, lactic acidosis, and strokes [clevelandclinicmeded.com]
Neurologic ALS [25] >35 Proximal & Distal Distal − − − − + + + − Dysphagia Spasticity Hyperreflexia Babinski's + N/A Both upper and lower motor neuron signs Clinical diagnosis Normal Nonspecific findings of chronic denervation with reinnervation Neuropathic Stroke [wikidoc.org]
Mitochondrial diseases with typical combinations of clinical symptoms: Kearns-Sayre syndrom, progressive external ophthalmoplegia, Pearson syndrome, myoclonic epilepsy with ragged red fibers (MERFF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like [orphananesthesia.eu]
- Clumsiness
The hands become clumsy, the face rigid, and the muscles in the forearm stiff. [healthcommunities.com]
[…] particles Transport of poly(A) mRNA from nucleus to cytoplasm Essential for assembly of ribonucleoprotein granules Tends to assemble into self-seeding fibrils: Exacerbated by disease mutations Recruited to stress granules Clinical 35 Onset Childhood: Clumsy [neuromuscular.wustl.edu]
- Asthenia
Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. [aafp.org]
[…] paresthesia, burning Negative: numbness or sensory ataxia ChLORIDE-PP Chronological evolution of symptoms Did the symptom occur in a focal nerve distribution before it became confluent (e.g., MMN vs length-dependent polyneuropathy) Distinguish weakness from asthenia [sites.google.com]
Workup
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]
Treatment
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
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]
Etiology
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]
Epidemiology
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]
Pathophysiology
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]
Prevention
[…] 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]
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]
Also, early referral to a physiotherapist can prevent the secondary tightening of the tendo Achilles, which occurs in all patients with time. [nature.com]
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]