Phenotype Characteristics | Patient II.1 | Patient II.3 | Families described in Ref.3 |
---|---|---|---|
Age at onset | 7 months | 10 months | 15 &18 months, infancy, or Unknown |
Disease duration | ~9 years | ~3 years | Range between 2 and 33 years old with a mean of 30 years |
Presentation at disease onset | Marked lower limbs spasticity and developmental delay | Developmental delay and marked lower limbs spasticity | Delayed walking |
Speech delay | + (speech started at age 3 years) | + (speech started at age 2 and half years) | - |
Speech dysarthria | + | + | - |
Lower limbs Spasticity | Markedly severe | Markedly Severe | Mild |
Back hypotonia | + | + | - |
Walking ability | Can walk unsupported with abnormal gait | Can walk unsupported with tip toe walking and abnormal gait | Some can walk unsupported, others walk with support |
Gait abnormality | + (Unsteady gait while walking associated with lumber lordosis, knees flexion, limited foot movements, limited knees and hips extension. | + (Tip toe walking, in-toing, knee flexion (milder than older brother), lordosis, unsteadiness because of movements limitation. | + (some cases showed associated knees flexion contracture) |
Learning disability | + (attending special school) | + | + (except in one family reported with normal cognition) |
Cerebellar signs | - | - | - |
Ophthalmolo-gical signs | Latent convergent Squint improved following correction glasses, optic disk normal | Hyper-metrope, no squint, normal optic disk | Squint, glaucoma, or primary optic atrophy, each sign was reported once in a patient |
Brain MRI | TCC, CC dysgenesis, white matter cystic changes and hyperintensities | Similar findings in addition to frontal cerebral atrophy | TCC & white matter changes in 4 families with available images |
Skin changes | Variable size patches of brownish discoloration begin to appear at 6 years old | - (he is yet at the age of 3 years) | - |
Skeletal abnormalities | Equinus foot | Equinus foot | Equinus foot in one family |
Urine incontinence | + [he developed the control just lately] | + | Nocturnal enuresis in only one case |
Reference | This report | This report | [3] |