| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
27 YR |
| Sex |
Male |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
RYR1, C.7615-3T>A, SPLICING, INTRON 47 |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
GENOMIC DUPLICATION OF RYR1AT MINIMUM INCLUDING EXON 99 TO 106. THE EXACT BOUNDARY IS UNKNOWN. EXON 94 IS NOT DUPLICATED. |
| Age of Symptom Onset and Age at Diagnosis |
| 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 |
| Musculoskeletal and Developmental Testing: |
PSEUDOCORES AND INTERNALIZED NUCLEI MYOPATHY
25% WILD-TYPE RYR1 PROTEIN LEVEL FROM WESTERN BLOT |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" tab. This combination of variants has been referred to in published literature as "Dusty Core Disease (DuCD)" (PMID: 30611313). DuCD is a new category of core myopathy; it was previously diagnosed as CCD, centronuclear myopathy, MmD, or core-rod myopathy. DuCD is caused by recessive RYR1 mutations and is the most common pathological consequence of biallelic mutations in RYR1 (PMID: 34627702). |