Table 1.
Clinical and examination findings of 2 siblings with SPG35. Ashworth Scale: (0) No increase in muscle tone, (1) Slight increase in tone with a catch and release or minimal resistance at end of range, (2) As 1 but with minimal resistance through range following catch, (3) More marked increase tone through ROM, (4) Considerable increase in tone, passive movement difficult, (5) Affected part rigid.
| Patient 1: 13 year old sister | Patient 2: 5 year old brother | |
|---|---|---|
| Physical Findings | No dysmorphic features. Near constant drooling. Thoracolumbar scoliosis. | No dysmorphic features. Slight ptosis. |
| Mental status | Pleasant and appears normal but speech is difficult to understand. | Pleasant and appears normal but speech is difficult to understand. |
| Cranial nerve | Spastic dysarthria, bilateral optic atrophy, intermittent exotropia, broken saccades and supranuclear gaze palsy. | Spastic dysarthria, bilateral optic atrophy, intermittent exotropia, broken saccades and supranuclear gaze palsy. |
| ROM/Tone | Slow tongue movements. Spastic tetraparesis Ashworth 2. Nondystonic tendency to preferentially keep head laterally flexed to the right. | Slow tongue movements. Mild-moderate contractures in the ankles, knees, and hips. Truncal hypotonia. Spastic tetraparesis Ashworth 1. Nondystonic tendency to preferentially keep head laterally flexed to the right |
| Gait | Non-ambulatory. | Ambulates only with assistance and demonstrates a spastic diplegic gait. |
| Cerebellar | Bradykinesia and moderate-to-severe appendicular dysmetria along with an intention tremor. Titubation at rest. | Bradykinesia and moderate-to-severe appendicular dysmetria along with an intention tremor. |
| Muscle bulk | Atrophy below knees bilaterally. | Atrophy below knees bilaterally. |
| Strength | Appeared full; testing limited by spasticity. | Appeared full; testing limited by spasticity. |
| Reflexes | +4/4 throughout with a crossed adductor response and sustained ankle clonus. Babinski sign present bilaterally. | +4/4 throughout with a crossed adductor response and sustained ankle clonus. Babinski sign preset bilaterally. + Jaw jerk. |
| Electromyography and nerve conduction | Normal | - not performed - |
| Ophthalmologic exam | Optic nerve head pallor. | Bilateral +1 temporal optic nerve pallor. |