| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
15 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
13 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: |
CDKL5, C.1670C>G (P.S557X), EXON 12 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| Age at Diagnosis: |
13 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Additional Information: |
INFANTILE SPASMS |
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Seizures
|
| Additional Information: |
INTRACTABLE EPILEPSY
MUSCLE RIGIDITY/SPASTICITY
FREQUENT TREMORS |
| Optical and Audiological Symptoms |
| |
Blindness
|
| Additional Information: |
EARLY-ON CHRONIC EAR INFECTION
CORTICAL BLINDNESS |
| Musculoskeletal Symptoms |
| |
Scoliosis
|
| Additional Information: |
SIGNIFICANTLY SMALL FEET |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Abnormal height for age
Abnormal weight for age
|
| Walking Without Assistance: |
Not achieved and not maintained |
| Additional Information: |
NON VERBAL
SIGNIFICANT GROWTH RETARDATION |
| Gastrointestinal Symptoms |
| |
Bloating
Constipation
Gastrointestinal reflux
Eating difficulties
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Poor circulation
Breathing irregularities
|
| Additional Information: |
CHRONIC LUNG/CHEST INFECTION |
| Cognitive and Behavioral Symptoms |
| |
Sleep disturbances
|
| Additional Information: |
NO HAND USE
REPETITIVE HAND MOTIONS
TEETH GRINDING |
| Additional Information |
| Uncategorized Symptoms: |
OFTEN SICK
EXTREMELY SENSITIVE TO HEAT/COLD
MUST STAY WELL HYDRATED AT ALL TIMES |
| Testing Performed |
| Neurological Testing: |
EEG: SIGNIANT ABNORMALITY |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
|
| Surgeries |
G-TUBE FEEDING
EAR-TUBE PLACEMENT
VAGAL NERVE STIMULATOR PLACEMENT |
| Additional Testing: |
BRACES
CHEST VEST
COUGH ASSIST
SUCTION MACHINE |
| Medications |
| |
BANZEL
PREVACID
ZYRTEC
CALTRATE D
MIRALAX
ALBUTEROL (AS NEEDED) |
| Family History |
| Remarks |
Clinically affected; unaffected twin brother; nothing of significance noted at birth but never developed normally; diagnosed with seizures at 6 weeks old by EEG; suffered from chronic ear infections; muscle biopsy performed: initial diagnosis of mitochondrial disorder; swallow study confirmed that aspiration of food was occurring: can no longer take food by mouth; tonic-clonic seizures; at age 8 diagnosed with Cortical blindness; at age 11 diagnosed with reflux; suffers from severe scoliosis; has no hand use however suffers from constant/repetitive hand motions; nonverbal; cannot walk; Has occasional breathing problems; below average body size; often sick; suffers from teeth grinding and tremors; heterozygous mutation in CDKL5; p.SER557Stop(TCA>TGA): c.1670 C>G in exon 12 of CDKL5 gene diagnosed by GeneDx Neurogenetic Test; X-linked mutation; current medications: Banzel to control seizures, Prevacid for acid reflux, Caltrate, Zyrtek; treatments include: chest vest twice daily, cough assist twice daily, suction as needed; |