polyglucosan body myopathy 1 with or without immunodeficiency
A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
Also known as: PGBM1, polyglucosan body myopathy 1 with or without immunodeficiency, polyglucosan body myopathy type 1, polyglucosan body myopathy, early-onset, with or without immunodeficiency.
Category: General
Symptoms associated with polyglucosan body myopathy 1 with or without immunodeficiency
The following symptoms have been associated with polyglucosan body myopathy 1 with or without immunodeficiency in medical literature. Not everyone experiences the same symptoms.
Abdominal pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perc...
Chronic diarrhea
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Hematochezia
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colo...
Muscle weakness
Reduced strength of muscles....
Myalgia
Pain in muscle....
Proximal muscle weakness
A lack of strength of the proximal muscles....
Recurrent fever
Periodic (episodic or recurrent) bouts of fever....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate polyglucosan body myopathy 1 with or without immunodeficiency
Healthcare providers may order these tests when evaluating polyglucosan body myopathy 1 with or without immunodeficiency. 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 1 with or without immunodeficiency, which is why a clinical evaluation is important.
Behçet disease
Behçet disease is a medical condition that may be associated with various symptoms and signs....
Gitelman syndrome
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalem...
Idiopathic hypereosinophilic syndrome
Idiopathic hypereosinophilic syndrome is a medical condition that may be associated with various symptoms and ...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
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 polyglucosan body myopathy 1 with or without immunodeficiency?
polyglucosan body myopathy 1 with or without immunodeficiency is a health condition described in medical literature. A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
What are the symptoms of polyglucosan body myopathy 1 with or without immunodeficiency?
polyglucosan body myopathy 1 with or without immunodeficiency is associated with 9 symptoms in the medical literature we index, including Abdominal pain, Chronic diarrhea, Failure to thrive, Hematochezia, Muscle weakness, Myalgia. Symptoms vary widely between individuals.
How is polyglucosan body myopathy 1 with or without immunodeficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with polyglucosan body myopathy 1 with or without immunodeficiency 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 1 with or without immunodeficiency, please discuss your symptoms with a qualified healthcare provider.