| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
1 YR |
| Age at Diagnosis(If not a control) |
3 YR |
| Racial Category |
White |
| Country |
GERMANY |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SLC6A8, C.1260_1281DEL, P.GLY421ALAFSTER35, FRAMESHIFT |
| Zygosity: |
Hemizygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 YEAR |
| Age at Diagnosis: |
3 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Microcephaly
|
| Neurological Symptoms |
| |
Hypotonia
Seizures
White matter issues
|
| Additional Information: |
INCOMPLETE MYELINATION OF THE SUPRATENTORIAL WHITE MANNER
GAIT ABNORMALITY
NO SEIZURE WITHOUT AN EXTERNAL CAUSE AND WITHOUT EXCITEMENT |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
FLAT FEET
JOINT HYPERMOBILITY |
| Developmental Milestones |
| |
Delayed speech and language development
Delayed fine motor skills
|
| Running: |
Achieved and maintained |
| Additional Information: |
PSYCHOMOTOR RETARDATION
FIRST WORD AT 2.5 YEARS OF AGE
FREE RUN AT 2 YEARS OF AGE
SPEAKING 2-WORD SENTENCES WITH A VOCABULARY OF 200 WORDS |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Happy personality
Behavioral problems
|
| Additional Information: |
MENTAL IMPAIRMENT
IMPULSE CONTROL DISORDER WITH SCREAMING ATTACKS AND SYNCOPE
BELOW AVERAGE COGNITIVE PERFORMANCE LEVEL |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI: MASSIVELY REDUCED CREATINE RESPONSE; NARROW BAR, VAGUE SIGNAL INCREASE
EEG: GENERALIZED ABNORMAL BEAT ACTIVITY; NO EVIDENCE OF EPILEPSY; PATHOLOGICAL WAKEFULNESS-TIREDNESS-SLEEP UP TO STAGE 3, DUE TO MASSIVE FOCAL HSA IN THE FORM OF AMPLITUDE-HISH SHARP SLOW WAVES WITH MAXIMUM RIGHT OARIETO-OCCIPITAL. THERE IS ALSO PHASE REVERSAL. |
| Cognitive and Behavioral Testing: |
COGNITIVE DEVELOPMENT AROUND 24-26 MONTHS WHEN TESTED AT 3 YEARS AND 9 MONTHS |
| Metabolic, Hematologic, and Endocrinologic Testing: |
URINE CREATINE: 253.4 UMOL/KG/24H (H)
URINE PH 8.5 (H)
URINE LEUKOCYTE 54.0 (H) |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
horseback therapy
|
| Medications |
| |
MOVICOL JUNIOR, CREATINE, GLYCINE, ARGININE |
| Family History |
| |
MUTATION INHERITED FROM MOSAIC CARRIER MOTHER |
| Remarks |
Clinically affected. See "Phenotypic Data" tab; making good progress with current therapy. Fibro is GM28292; Unaffected mother is GM28293 and GM28295. |