nemaline myopathy 7
Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.
Also known as: CFL2 nemaline myopathy, NEM7, nemaline myopathy 7, nemaline myopathy caused by mutation in CFL2, nemaline myopathy type 7.
Category: General
Symptoms associated with nemaline myopathy 7
The following symptoms have been associated with nemaline myopathy 7 in medical literature. Not everyone experiences the same symptoms.
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
Lower limb muscle weakness
Weakness of the muscles of the legs....
Muscle fibrillation
Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascer...
Muscle weakness
Reduced strength of muscles....
Neck muscle weakness
Decreased strength of the neck musculature....
Respiratory insufficiency due to muscle weakness
Information about Respiratory insufficiency due to muscle weakness....
Shoulder girdle muscle weakness
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refe...
Upper limb muscle weakness
Weakness of the muscles of the arms....
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Tests used to investigate nemaline myopathy 7
Healthcare providers may order these tests when evaluating nemaline myopathy 7. 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 nemaline myopathy 7, which is why a clinical evaluation is important.
Mitochondrial complex IV deficiency, nuclear type 2
Mitochondrial complex IV deficiency, nuclear type 2 is a medical condition that may be associated with various...
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....
neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima is a medical condition that may be as...
Frequently Asked Questions
What is nemaline myopathy 7?
nemaline myopathy 7 is a health condition described in medical literature. Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.
What are the symptoms of nemaline myopathy 7?
nemaline myopathy 7 is associated with 9 symptoms in the medical literature we index, including Limb muscle weakness, Lower limb muscle weakness, Muscle fibrillation, Muscle weakness, Neck muscle weakness, Respiratory insufficiency due to muscle weakness. Symptoms vary widely between individuals.
How is nemaline myopathy 7 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with nemaline myopathy 7 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 nemaline myopathy 7, please discuss your symptoms with a qualified healthcare provider.