myofibrillar myopathy 1
A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.
Also known as: DES autosomal recessive limb-girdle muscular dystrophy, DES myofibrillar myopathy (disease), autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES, autosomal recessive limb-girdle muscular dystrophy type 2R, desmin-related myofibrillar myopathy, desminopathy, myofibrillar myopathy (disease) caused by mutation in DES, myofibrillar myopathy 1, myofibrillar myopathy type 1, myopathy, myofibrillar, type 1.
Category: General
Symptoms associated with myofibrillar myopathy 1
The following symptoms have been associated with myofibrillar myopathy 1 in medical literature. Not everyone experiences the same symptoms.
Bulbar palsy
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X...
Constipation
Infrequent or difficult evacuation of feces....
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Late-onset proximal muscle weakness
Lack of strength of the proximal musculature occurring late in the clinical course....
Neck muscle weakness
Decreased strength of the neck musculature....
Respiratory insufficiency due to muscle weakness
Information about Respiratory insufficiency due to muscle weakness....
Tests used to investigate myofibrillar myopathy 1
Healthcare providers may order these tests when evaluating myofibrillar myopathy 1. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with myofibrillar myopathy 1, which is why a clinical evaluation is important.
Acute intermittent porphyria
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Proximal spinal muscular atrophy
Proximal spinal muscular atrophy is a medical condition that may be associated with various symptoms and signs...
Steinert myotonic dystrophy
Steinert myotonic dystrophy is a medical condition that may be associated with various symptoms and signs....
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
myasthenic syndrome, congenital, 1B, fast-channel
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-o...
myofibrillar myopathy 2
Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene....
Frequently Asked Questions
What is myofibrillar myopathy 1?
myofibrillar myopathy 1 is a health condition described in medical literature. A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.
What are the symptoms of myofibrillar myopathy 1?
myofibrillar myopathy 1 is associated with 8 symptoms in the medical literature we index, including Bulbar palsy, Constipation, Diarrhea, Distal muscle weakness, Facial palsy, Late-onset proximal muscle weakness. Symptoms vary widely between individuals.
How is myofibrillar myopathy 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with myofibrillar myopathy 1 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have myofibrillar myopathy 1, please discuss your symptoms with a qualified healthcare provider.