MEGF10-related myopathy
A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.
Also known as: MEGF10 myopathy, MEGF10-related myopathy, congenital myopathy 10A, severe variant, EMARDD, early-onset myopathy, areflexia, respiratory distress and dysphagia, early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome, myopathy, areflexia, respiratory distress, and dysphagia, early-onset.
Category: General
Symptoms associated with MEGF10-related myopathy
The following symptoms have been associated with MEGF10-related myopathy in medical literature. Not everyone experiences the same symptoms.
Diaphragmatic weakness
A decrease in the strength of the diaphragm....
Dysphagia
Difficulty in swallowing....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tongue fasciculations
Fasciculations or fibrillation affecting the tongue muscle....
Tests used to investigate MEGF10-related myopathy
Healthcare providers may order these tests when evaluating MEGF10-related myopathy. 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 MEGF10-related myopathy, which is why a clinical evaluation is important.
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
Carey-Fineman-Ziter syndrome 1
A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial ...
Helsmoortel-van der Aa syndrome
Helsmoortel-van der Aa syndrome is a medical condition that may be associated with various symptoms and signs....
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is MEGF10-related myopathy?
MEGF10-related myopathy is a health condition described in medical literature. A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.
What are the symptoms of MEGF10-related myopathy?
MEGF10-related myopathy is associated with 7 symptoms in the medical literature we index, including Diaphragmatic weakness, Dysphagia, Facial palsy, Failure to thrive, Gastroesophageal reflux, Seizure. Symptoms vary widely between individuals.
How is MEGF10-related myopathy diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with MEGF10-related myopathy 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 MEGF10-related myopathy, please discuss your symptoms with a qualified healthcare provider.