From: Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome
Clinical features | Proband | Sister |
---|---|---|
Sex | F | F |
Age at disease onset, years | 3 | 11 |
Age at examination, years | 27 | 19 |
Disease duration | 24 | 8 |
Sensorineural hearing loss | +(5*) | +(12*) |
Ovarian dysfunction | +(15*) | +(12*) |
Intellectual disability | – | – |
Dementia | – | – |
Epilepsy | – | – |
Cerebellar syndrome | +(3*) | +(11*) |
SDFS | 3 | 2 |
Impaired eyes movement | + | + |
Gaze-evoked horizontal nystagmus | + | + |
Gaze-evoked vertical nystagmus | – | + |
Dysarthria | + | + |
Ataxia | + | + |
Positive Romberg’s test | + | + |
Flaccid paresis | +(?*) | +(?*) |
Muscle weakness | +UL < LL | +UL < LL |
Muscle atrophy | +UL < LL | +UL < LL |
Tendon reflexes UL | Diminished | Diminished |
Tendon reflexes LL | Absent | Absent |
Gait | Steppage | Steppage |
High-arched palate | + | + |
Pes cavus and clawed toes | + | + |
Other features—Hashimoto disease | + | + |
Laboratory findings | ||
---|---|---|
Lactate elevation | n.a. | + |
CK elevation | n.a. | + |
FSH and LH elevation | + | + |
EMG | Axonal, sensorimotor polyneuropathy | Axonal, sensorimotor polyneuropathy |
Abnormal neuroimaging | + | + |