Finding | Patient | ||||||
---|---|---|---|---|---|---|---|
1 | 2 | 3 | 4 | 5 | 6 | 7 | |
Sex | Male | Male | Female | Female | Female | Male | Male |
Year of birth | 1993 | 1991 | 1989 | 1989 | 1989 | 1983 | 1980 |
No. siblings | |||||||
Affected | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Unaffected | 0 | 0 | 1 | 0 | 0 | 2 | 2 |
Consanguinity of parents | No | No | No | No | No | No | No |
Ethnic background | Caucasian | Caucasian | Caucasian | Caucasian | Asian-Caucasian | Caucasian | Caucasian |
Age at presentation | 1 y | 1.5 y | 2 y | 1 y | 2 mo | 2 mo | 3 y |
Presenting sign | Delayed motor development | Delayed motor development | Delayed motor development | Delayed motor development | Poor vision | Poor vision | Motor deterioration |
Initial motor development | Delayed | Delayed | Delayed | Normal | Very little* | Very little* | Normal |
Supported walking | At 3.5 y | At 18 mo | At 20 mo | At 12 mo | No | No | At 12 mo |
Unsupported walking | No | No | At 2.5 y | No | No | No | At 14 mo |
Onset of motor deterioration | At 1.5 y | At 2 y | At 6 y | At 2 y | In infancy | At 5 mo | At 3 y |
Loss of supported walking ability | None | At 4.5 y | At 6 y | At 2.5 y | NA | NA | At 10 y |
Motor signs | |||||||
Spasticity | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Ataxia | Yes, mild | Yes | Yes | Yes | Not testable | Not testable | Yes, mild |
Tremor | No | Yes | Yes | No | No | No | Yes |
Choreoathetosis | No | Yes | Yes | Yes | Yes | No | Yes |
Dystonia | Yes | Yes | Yes | Yes | Yes | No | Yes |
Rigidity | Yes | Yes | No | Yes | Yes | Yes | Yes |
Dysarthria | Anathria | Yes | Yes | Anarthria | Anarthria | Anathria | Yes |
Intelligence | Mental retardation | Learning difficulties | Learning difficulties | Learning difficulties | Not testable | Not testable | Learning difficulties |
Cognitive decline | No | Questionable | Questionable | No | Not testable | Not testable | Mild |
Epilepsy | No | No | No | No | Few seizures | One seizure | No |
Vision | Normal | Normal | Normal | Normal | Decreased, pale optic discs | Decreased, pale optic discs | Normal |
Hearing | Normal | Normal | Normal | Normal | Normal | Normal | Normal |
Head circumference | −2 SD | Normal | Normal | Normal | <2 SD | <2 SD | Normal |
Stature | <2 SD | Normal | Normal | Normal | <2 SD | <2 SD | Normal |
Note.—NA indicates not applicable.
* Holding objects.