| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
61 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
48 YR |
| Age at Diagnosis(If not a control) |
57 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
VCP, R155H, MISSENSE |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
48 YEARS |
| Age at Diagnosis: |
57 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Physical therapy
|
| Additional Testing: |
CANE |
| Medications |
| |
METOPROLOL SUCCINATE ER, 25 MG
FUROSEMIDE 20 MG
POTASSIUM MEQ
CYCLOBENZAPRINE 20 MG |
| Family History |
| |
MOTHER HAD MYOPATHY, PAGET DISEASE, FTD AND ALZHEIMER'S
SISTER HAS PAGET DISEASE
BROTHER HAD MYOPATHY, PAGET DISEASE AND FTD
ONE AUNT HAD PAGET DISEASE AND ALZHEIMER'S; ONE OF HER SONS HAD MYOPATHY AND FTD, THE OTHER SON HAS FTD
GRANDMOTHER HAD FTD
MOTHER'S HALF SISTER HAD FTD |
| Remarks |
Clinically affected. Inclusion body myopathy with Paget disease, without frontotemporal dementia. See "Phenotypic Data" Tab. |