| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
2 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: |
ECHS1: C.523G>A (P.GLY175SER) - EXON 5 (NM_004092.3)
ECHS1: C.664G>A (P.ALA222THR) - EXON 6 (NM_004092.3) |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Difficulty breathing
Caesarian section
|
| Additional Information: |
ANKYLOGLOSSIA AT BIRTH BUT CORRECTED |
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypertonia
Unstable gait
Basal ganglia damage
|
| Additional Information: |
MILD AXIAL AND APPENDICULAR HYPERTONIA; MANIFESTATIONS OF LEIGH SYNDROME |
| Optical and Audiological Symptoms |
| |
Defective hearing
|
| Additional Information: |
LOSS OF HEARING AT HIGH FREQUENCIES |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
SPASTICITY IN LIMBS; PEDIATRIC EQUINUS; SPASTIC DIPLEGIA; UNSTEADY GAIT; MIXED TONE AND HYPEREXTENSION OF LEG; |
| Developmental Milestones |
| |
Delayed speech and language development
|
| Running: |
Not achieved and not maintained |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
PROTEIN AND FAT RESTRICTED DIET; TAKES DIET SUPPLEMENT |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Heart murmur
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI: SYMMETRICAL FLAIR HYPERINTENSITY IN THE LENTIFORM AND CAUDATE NUCLEI BILATERALLY WITHOUT RESTRICTED DIFFUSION. |
| Respiratory and Cardiovascular Testing: |
NORMAL ECHO WITH NOTED MURMUR |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
|
| Medications |
| |
MITO MIX, NAC, LIPOIC ACID, B COMPLEX, COQ10 |
| Family History |
| Remarks |
See "Phenotypic Data" tab. Mother is GM29340, father is GM29337 (LCL) and GM29405 (fibroblast). Unaffected siblings are GM29336 and GM29339. |