| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
30 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
19 YR |
| Age at Diagnosis(If not a control) |
29 YR |
| Hispanic or Latino/Not Hispanic or Latino |
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: |
COL6A3, C.5590G>A (P.A1864T), MISSENSE, EXON 12 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
19 YEARS |
| Age at Diagnosis: |
29 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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| Additional Information: |
GENERALIZED MUSCLE WEAKNESS
MILD PIP ENLARGEMENT OVER RIGHT HAND
SEVERELY ABNORMAL MATURE SKELETON MUSCLE WITH EVIDENCE OF A CHRONIC NECROBIOTIC MYOPATHIC PROCESS WITH SOME INFLAMMATORY FEATURES |
| 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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Breathing irregularities
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| Additional Information: |
DIFFICULTY BREATHING AT NIGHT
CHEST TENDERNESS ON PALPATION |
| Cognitive and Behavioral Symptoms |
| |
Anxiety
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| Additional Information |
| Testing Performed |
| Neurological Testing: |
BICEP MUSCULAR WEAKNESS 4+/5, TRICEP 5-/5 MUSCULATURE, HIP FLEXOR WEAKNESS 4+/5, QUADRACEPT MUSCLE STRENGTH 4-/5, HAMSTRING STRENGTH 5/5, DISTAL UPPER AND LOWER EXTREMITY MUSCULATURE 5/5, REDUCED REFLEX IN RIGHT HEAL AND PATELLAR REFLEX. |
| Musculoskeletal and Developmental Testing: |
MUSCLE BIOPSY: SCATTERED MYOFIBERS IN VARYING STAGES OF DEGENERATION; RELATIVELY RARE SDH POSITIVE MYOFIBERS; SCATTERED CD3 POSITIVE LYMPHOCYTES; SMALL TO MODERATE NUMBERS OF CD68/HISTIOCYTIC CELLS
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| Metabolic, Hematologic, and Endocrinologic Testing: |
CK: 11,000 (AGE 19), 3485 (AGE 27), 1900 (AGE 29)
AST: 83 (AGE 27) - HIGH
ALT: 170 (AGE 27) - HIGH
ALDOLASE: 21.9 (AGE 27) - HIGH |
| Treatments and Assistive Devices |
| |
Physical therapy
|
| Additional Testing: |
SWIMMING |
| Medications |
| Family History |
| Remarks |
Clinically affected; onset of symptoms at 19 years of age; generalized muscle weakness; polymyositis; episodes of tripping and falling; difficulty raising leg; difficulty keeping hands above head; difficulty walking upstairs; discomfort over the deltoid musculature while working on the computer. |