Table 1 Clinical information of the affected individuals in the pedigree
Clinical information | ||||||
|---|---|---|---|---|---|---|
Features | IV.2 | IV.3 | IV.4 | IV.5 | V.1 | V.2 |
Age | 30 | 28 | 25 | 22 | 12 | 9 |
Gender | Female | Female | Male | Male | Male | Female |
Developmental delay | ++ | ++ | ++ | ++ | ++ | ++ |
Seizures | GTCS | GTCS | GTCS | GTCS | GTCS | GTCS |
Ataxia | ++ | ++ | ++ | ++ | ++ | ++ |
Nystagmus | Upgaze nystagmus | No | No | Horizontal gaze evoked | No | No |
Incoordination | ++ | ++ | ++ | ++ | ++ | ++ |
Muscle tone | Increased (spastic type) | Increased (spastic type) | Increased (spastic type) | Increased (spastic type) | Increased (spastic type) | Increased (spastic type) |
DTRs | Exaggerated | Exaggerated | Exaggerated | Exaggerated | Exaggerated | Exaggerated |
Plantar | Extensor | Extensor | Extensor | Extensor | Extensor | Extensor |
Irritability | + | + | + | + | + | + |
Stereotypes | − | − | + | − | + | − |
Psychosis | + | − | − | − | − | − |
Hyperactivity | − | − | + | − | + | + |
Speech | Dysarthric (scanning + spastic) | Dysarthric (scanning + spastic) | Dysarthric (scanning + spastic) | Dysarthric (scanning + spastic) | No speech | No speech |
Gait | Unable to walk | Unable to walk | Unable to walk | Unable to walk | Walks with support | Walks with support |
Audiometry | Mild SNHL | Mild SNHL | Severe SNHL | Severe SNHL | Moderate SNHL | Moderate SNHL |
IQ | Not done | Not done | Not done | Not done | Profound mental retardationa | Profound mental retardationa |