polyglucosan body myopathy type 2
Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.
Also known as: GYG1 polyglucosan body myopathy, polyglucosan body myopathy caused by mutation in GYG1, polyglucosan body myopathy type 2, PGBM2, polyglucosan body myopathy 2.
Category: General
Symptoms associated with polyglucosan body myopathy type 2
The following symptoms have been associated with polyglucosan body myopathy type 2 in medical literature. Not everyone experiences the same symptoms.
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Hand muscle weakness
Reduced strength of the musculature of the hand....
Limb-girdle muscle weakness
Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength...
Muscle fibrillation
Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascer...
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 ...
Peroneal muscle weakness
Weakness of the peroneal muscles....
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 polyglucosan body myopathy type 2
Healthcare providers may order these tests when evaluating polyglucosan body myopathy type 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 polyglucosan body myopathy type 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...
Neutral lipid storage disease with myopathy
Neutral lipid storage disease with myopathy is a medical condition that may be associated with various symptom...
Pure mitochondrial myopathy
Pure mitochondrial myopathy 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....
myofibrillar myopathy 2
Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene....
myopathy, myofibrillar, 13, with rimmed vacuoles
A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axo...
Frequently Asked Questions
What is polyglucosan body myopathy type 2?
polyglucosan body myopathy type 2 is a health condition described in medical literature. Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.
What are the symptoms of polyglucosan body myopathy type 2?
polyglucosan body myopathy type 2 is associated with 7 symptoms in the medical literature we index, including Distal muscle weakness, Hand muscle weakness, Limb-girdle muscle weakness, Muscle fibrillation, Pelvic girdle muscle weakness, Peroneal muscle weakness. Symptoms vary widely between individuals.
How is polyglucosan body myopathy type 2 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with polyglucosan body myopathy type 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 polyglucosan body myopathy type 2, please discuss your symptoms with a qualified healthcare provider.