Phenotype #0000321841
| Individual ID |
00431236 |
| Associated disease |
SPG |
| Phenotype details |
22y-loss ambulation; normal motor development; no cognitive deficits; saccadic pursuit; no dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, proximal lower limb weakness; no muscle atrophy; extensor plantar response; vibration/surface/temperature deficits; no ataxia; no extrapyramidal involvement; urinary urgency or incontinence, no fecal urgency or incontinence; axonal polyneuropathy; motor evoked potentials upper limbs normal/lower limbs reduced cortical amplitudes; 33y-upper limbs prolonged central latency, lower limbs no cortical potential; MRI cranium/cervical spine normal |
| Diagnosis/Initial |
spastic paraplegia |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
SPG85 |
| Age/Examination |
34y (34 years) |
| Age/Diagnosis |
- |
| Age/Onset |
5y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-02-04 20:45:33 +01:00 (CET) |
| Date last edited |
N/A |
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