inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.
Also known as: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1, inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1, IBMPFD1, inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1.
Category: General
Symptoms associated with inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
The following symptoms have been associated with inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 in medical literature. Not everyone experiences the same symptoms.
Back pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localize...
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Hip pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localize...
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
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 ...
Progressive proximal muscle weakness
Lack of strength of the proximal muscles that becomes progressively more severe....
Proximal muscle weakness
A lack of strength of the proximal muscles....
Scapular winging
Abnormal protrusion of the scapula away from the surface of the back....
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 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Healthcare providers may order these tests when evaluating inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1. 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 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, which is why a clinical evaluation is important.
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Frequently Asked Questions
What is inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1?
inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 is a health condition described in medical literature. A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.
What are the symptoms of inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1?
inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 is associated with 9 symptoms in the medical literature we index, including Back pain, Facial palsy, Hip pain, Limb muscle weakness, Pelvic girdle muscle weakness, Progressive proximal muscle weakness. Symptoms vary widely between individuals.
How is inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 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 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, please discuss your symptoms with a qualified healthcare provider.