| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
0 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
White |
| Country |
SPAIN |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
LAMA2, C.363C>A (P.TYR121TER), NONSENSE, EXON 3 |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
LAMA2, C.3085C>T (P.ARG1029TER), NONSENSE, EXON 22 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| Age at Diagnosis: |
LESS THAN ONE MONTH |
| In Utero History Information |
| |
Decreased fetal movement
|
| Birth History Information |
| |
|
| Additional Information: |
INDUCED LABOR
GENERALIZED HYPOTONIA
WEAKNESS
POOR SUCTION
WEAK CRY
NO FACIAL OR OCULAR INVOLVEMENT |
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
GENERALIZED WEAKNESS
GENERALIZED AREFLEXIA
AXIAL AND LIMB WEAKNESS |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
PROMINENT CALCANEUS
POOR MUSCLE MASS AND SUBCUTANEOUS FAT |
| Developmental Milestones |
| |
|
| Holding Head Up Without Assistance: |
Achieved and maintained |
| Sitting Without Assistance: |
Achieved and maintained |
| Walking Without Assistance: |
Not achieved and not maintained |
| Running: |
Not achieved and not maintained |
| Gastrointestinal Symptoms |
| |
Gastrointestinal reflux
|
| Additional Information: |
LOW DEGREE OF VELO-PHARYNGEAL DYSFUNCTION |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
NARROW THORAX
REITERATIVE EPISODES OF BRONCHITIS |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
LOW WEIGHT |
| Testing Performed |
| Musculoskeletal and Developmental Testing: |
EMG: MYOGENIC PATTERS
MUSCULAR BIOPSY: DYSTROPHIC PATTERN WITH ABSENCE OF MEROSIN |
| Respiratory and Cardiovascular Testing: |
EKG AND ECHOCARDIOGRAPHY: MINIMAL TRICUSPID INSUFFICIENCY WITHOUT HEMODYNAMIC REPERCUSSION |
| Metabolic, Hematologic, and Endocrinologic Testing: |
HIGH CK LEVEL
|
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
|
| Medications |
| |
NOCTURNAL NONINVASIVE VENTILATION DURING RESPIRATION ILLNESS AND INTENSIVE RESPIRATORY PHYSIOTHERAPY AND COUGH ASSIST.
INFLUENZA VACCINE
PALIVIZUMAB
THICKENING AGENTS FOR WATER
HYPERCALORIC DIET WITH HIGH PROTEIN
OCCASIONAL G-TUBE |
| Family History |
| Remarks |
Clinically affected. Axial hypotonia, areflexia, axial and limb weakness. Reiterative episodes of bronchitis. Under weight. Poor fetal movements. Induced labor. Generalized hypotonia, weakness and poor suction at birth, without facial or ocular involvement. At 2 weeks of age tested high CK level. EMG showed a myogenic pattern. A muscular biopsy showed a dystrophic pattern with absence of merosin. Compound heterozygous mutation in the LAMA2 gene c.363C>A (p.Tyr121ter)/c.2085C>T (p.Arg1029Ter). Parents are carriers. |