| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
1 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
UNITED KINGDOM |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
LAMA2, C.5221C>T (P.R1706X), NONSENSE |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
1 YEAR |
| 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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Hypotonia
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Sitting Without Assistance: |
Not achieved and not maintained |
| Walking Without Assistance: |
Not achieved and not maintained |
| Running: |
Not achieved and not maintained |
| Additional Information: |
ACHIEVED HOLDING HEAD UP WITHOUT ASSISTANCE, NOT KNOWN WHETHER MAINTAINED |
| 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: |
RIGHT QUADRICEPS MUSCLE EXAM
IMMUNE CHEMISTRY: MEROSIN ABSENT; ALPHA, BETA AND GAMMA SARCOGLICANS AND BETA DISTROGLICAN PRESENT
MICROSCOPY: FRAGMENT OF STRIATED MUSCLE TISSUE WITH A SEVERELY ALTERED ARCHITECTURE THROUGH THE PRESENCE OF A CONNECTIVE TISSUE ENDOMYSIUM PROLIFERATION ACCOMPANIED BY A DIFFUSE CELLULAR AND PERIVASCULAR REACTION THAT CREATES IN SOME AREA SMALL INFILTRATES WITH MONONUCLEAR CELLS. A SUBSTANTIAL SIZE VARIABILITY OF THE MUSCULAR FIBERS THROUGH THE PRESENCE OF FIBERS IN DIFFERENT STAGES OF ATROPHY AND RARE FIBERS OF A LARGER SIZE, WITHOUT A SPECIFIC TOPOGRAPHY, WITH A GENERALLY ROUND CONTOUR IS OBSERVED. |
| Metabolic, Hematologic, and Endocrinologic Testing: |
DIAGNOSIS CONFIRMED VIA: CREATINE KINASE LEVEL, MUSCLE BIOPSY AND GENETIC TESTING |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
Clinically affected; suspicion of congenital muscular dystrophy and hypotonia at age 10 months, diagnosis of merosin-deficient congenital muscular dystrophy 1A confirmed at age 1 year; milestones achieved: holding head up without assistance |