| Demographic Data |
| Relation to Proband |
brother |
| Sex |
Male |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
ROMANIA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING REVEALED A VARIANT IN THE FIG4 GENE, C.21DEL (P.LLE8SERFS*19). |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Additional Information: |
HYPOTONIC |
| Dysmorphic Features |
| |
|
| Additional Information: |
BILATERAL FOOT DEFORMITY, LEGS FIXED IN VARUS EQUINUS |
| Neurological Symptoms |
| Neuropathy: |
Other |
| |
Dystonia
Basal ganglia damage
|
| Additional Information: |
OROFACIAL DYSTONIA, EXTRAPYRAMIDAL SYNDROME, HYPERMOBILITY SYNDROME, RIGID MOVEMENT DISORDER, HYPO MOTOR, DYSKINETIC MOVEMENT PATTERN. |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
Contractures
Scoliosis
Kyphosis
|
| Additional Information: |
ACHILLES RETRACTIONS AND CONTRACTURES, CHEST DEFORMITY |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
SIGNIFICANT DEVELOPMENTAL DISORDER, NONVERBAL |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Additional Information: |
DIURESIS |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI OF THE BRAIN REVEALED LESIONS OF THE BASAL GANGLIA AND MEDULLA, WITH ATROPHY OF THE AFFECTED BRAIN STRUCTURES. EMG STUDY: SIGNIFICANTLY REDUCED MOTOR CONDUCTION VELOCITIES ON THE ULNAR, BILATERAL MEDIAN NERVES AND MOTOR AND SENSORY MOTOR CONDUCTION VELOCITIES WITH PROLONGED LATENCIES, NORMAL AMPLITUDE DISTAL CMAP AND LOWER PROXIMAL (PARASITIC CONTRACTIONS? EXTRAPYRAMIDAL SYNDROME), NO BLOCK APPEARANCE, DECREASED SNAP AMPLITUDE, SNAP NOT OBTAINED ON THE SURAL NERVE, BUT VERY DIFFICULT TO PERFORM, BILATERAL TIBIAI NERVES MOTOR CONDUCTION VELOCITIES ALSO SIGNIFICANTLY DECREASED, RIGHT PERONEAI WITH PROLONGED LATENCIES AND LOW AMPLITUDE CMAP, ESPECIALLY PROXIMALLY, TECHNICALLY DIFFICULT. SENSORY CONDUCTION VELOCITY NORMAL RIGHT ULNAR NERVE, BUT ALSO SMALL AMPLITUDE SNAP. CONCLUSION: SEVERE CHRONIC SENSORY-MOTOR POLYNEUROPATHY, GENETIC DEMYELINATING FORM. |
| Uncategorized Testing: |
RECEIVES PT 5X/WEEK, HYDROTHERAPY (1X/WEEK). RECEIVED HYPERBARIC THERAPY FOR 1 YEAR, |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Wheelchair or ambulation devices
|
| Additional Testing: |
PREVIOUS BOTILINUM TOXIN INJECTIONS |
| Medications |
| Family History |
| |
HAS 2 AFFECTED BROTHERS; 3 OTHER HEALTHY SIBLINGS. |
| Remarks |
See "Phenotypic Data" tab. Affected brothers are GM30083 and GM30087. |