Family/patient | Sex | AO | Muscle tone and tendon reflexes lower extremities | Muscle tone and tendon reflexes upper extremities | Deep sensation vibration and position | GMFCS (level) | Cognitive and language developmental delay | MRI/CT of brain | Kyphosis/pectus carinatum | Hypertrichosis | Small joint hyper-flexibility | Miscellaneous |
1/VI7 | F | 15 m | +++ Clonus | Normal muscle tone, increased tendon reflexes | Normal | III Uses walker* | Mild | Normal MRI of brain and spine at 3 Y | ++/− | − | + | Normal hearing and vision |
1/VI14 | F | 36 m | +++ Clonus | Increased muscle tone and tendon reflexes | Diminished vibration sensation | III Uses walker* | Mild, speech delay | Normal CT at 3 Y, normal MRI at 9 Y, mild ventriculomegaly | +/− | ++ | + | Normal hearing and vision |
1/VI15 | F | 15 m | +++ Clonus | Normal muscle tone, increased tendon reflexes | Normal | III Uses walker | Normal intelligence, mild speech difficulties | Normal MRI at 7 Y | +/+ | − | + | Normal hearing and vision |
1/VI16 | M | 10 m | +++ Spontaneous clonus | Increased muscle tone and tendon reflexes | Loss of vibration sensation | IV Uses wheel chair and walker* | Mild, speech delay | At 18 m mild white matter changes—left, non-specific | +++/+ | − | ++ | Micro-meatus, normal hearing and vision |
1/VI17 | M | 12 m | ++++ Severe clonus | Increased muscle tone and tendon reflexes | Abnormal position sensation | IV Uses walker | Moderate | NA | ++/+ | + | + | Normal hearing and vision |
1/VII1 | F | 12 m | ++ | Increased muscle tone, increased tendon reflexes—severe | Normal | III Uses walker* | Severe, no speech | Suspected cortical dysplasia, insular left, otherwise normal MRI at 4 Y | +++/+ | − | + | Severe hearing impairment, far sighted needs glasses |
1/VII3 | M | 12 m | +++ | Normal muscle tone, increased tendon reflexes—mild | Normal | III Uses wheel chair and walker* | Mild, delayed speech | NA | ++/+ | + | + | Severe hearing impairment |
2/II8 | F | 7 m | +++ Clonus, dystonia | Increased muscle tone and tendon reflexes, dystonia | Normal | IV Uses wheel chair and walker | Mild, delayed speech | Normal CT at 3 Y | +++/+ | − | + | Far sighted needs glasses |
2/III12 | F | 8 m | +++ Dystonia | Increased muscle tone and tendon reflexes, dystonia | Normal | V | Moderate; delayed speech | Normal brain and spine MRI at 6 Y | ++/+ | NA | NA | FTT microcephaly normal hearing and vision |
↵* Botulinum injections.
AO, age at onset; CHSP, complex hereditary spastic paraparesis; FTT, failure to thrive; GMFCS, Gross Motor Function Classification System; m, months; NA, not available; Y, years.
+ and − indicated clinical manifestation. − = none; + = weak; ++ = moderate; +++ = severe; NA = not available.