myofibrillar myopathy 2
Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
Also known as: CRYAB autosomal dominant distal myopathy, CRYAB-related myofibrillar myopathy, alpha-B crystallinopathy, autosomal dominant distal myopathy caused by mutation in CRYAB, late-onset distal crystallinopathy, myofibrillar myopathy type 2, myopathy, myofibrillar, type 2, MFM2, myopathy, myofibrillar, 2.
Category: General
Symptoms associated with myofibrillar myopathy 2
The following symptoms have been associated with myofibrillar myopathy 2 in medical literature. Not everyone experiences the same symptoms.
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Dysphagia
Difficulty in swallowing....
Foot dorsiflexor weakness
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards...
Late-onset proximal muscle weakness
Lack of strength of the proximal musculature occurring late in the clinical course....
Limb-girdle muscle weakness
Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength...
Lower limb muscle weakness
Weakness of the muscles of the legs....
Neck muscle weakness
Decreased strength of the neck musculature....
Pelvic girdle muscle weakness
Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the ...
Quadriceps muscle weakness
Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)....
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...
Tests used to investigate myofibrillar myopathy 2
Healthcare providers may order these tests when evaluating myofibrillar myopathy 2. 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 2, which is why a clinical evaluation is important.
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2Z is a medical condition that may be associated with vari...
Bethlem muscular dystrophy
Bethlem muscular dystrophy is a medical condition that may be associated with various symptoms and signs....
Congenital fiber-type disproportion myopathy
Congenital fiber-type disproportion myopathy is a medical condition that may be associated with various sympto...
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...
nemaline myopathy 5C, autosomal dominant
nemaline myopathy 5C, autosomal dominant is a medical condition that may be associated with various symptoms a...
Frequently Asked Questions
What is myofibrillar myopathy 2?
myofibrillar myopathy 2 is a health condition described in medical literature. Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
What are the symptoms of myofibrillar myopathy 2?
myofibrillar myopathy 2 is associated with 11 symptoms in the medical literature we index, including Distal muscle weakness, Dysphagia, Foot dorsiflexor weakness, Late-onset proximal muscle weakness, Limb-girdle muscle weakness, Lower limb muscle weakness. Symptoms vary widely between individuals.
How is myofibrillar myopathy 2 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with myofibrillar myopathy 2 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 2, please discuss your symptoms with a qualified healthcare provider.