Phenotype #0000302457
| Individual ID |
00410353 |
| Associated disease |
HARP |
| Phenotype details |
10y: postural instability (frequent stumbling), followed by cognitive impairment and progressive dystonia (walking on toes); child complained of a tingling sensation below her ankles and observed recurrent episodes of mood lability; no history of consanguinity or family history of ophthalmologic or neurologic disease; visual acuity: 20/40 both eyes; funduscopy: bilateral temporal optic disc pallor; neurological examination: intact toe gait, but abnormal heel gait; finger-to-nose testing was normal but tandem gait revealed swaying to both sides, which may have been due to lower extremity weakness; Romberg test: negative; electroencephalography, electromyography with motor and sensory velocity studies, and visual evoked potentials: normal limits; biochemical laboratory tests including blood and urine levels of copper, ceruloplasmin, ferritin, complete blood count, liver function, lactate and pyruvate levels, and amino acid and organic acid screenings: normal, with the exception of elevated serum creatine kinase (300 IU/L; normal, 135 IU/L); genetic analysis of mitochondrial DNA and the dominant optic atrophy (OPA1) gene, early-onset torsion dystonia (GAC deletion c.901_903 delGAG), dopa-responsive dystonia (GCH1), and myotonic dystrophy (DM kinase CAG repeats): no mutations; magnetic resonance imaging: unremarkable; 8months later reevaluation because of deterioration of cognitive and motor function, and progression of visual impairment; visual acuity: 20/80 bilaterally, pupillary reactions and eye movements: normal; bilateral temporal optic disc pallor; optical coherence tomography: retinal nerve fiber layer loss; electroretinogram: normal; neurological examination: tendency toward dystonic posturing of the right hand and gait ataxia; repeat brain MRI: symmetric T2 hypointensity without focal hyperintensity that involved the globi pallidi and substantia nigra bilaterally |
| Diagnosis/Initial |
- |
| Inheritance |
Unknown |
| Diagnosis/Definite |
atypical pantothenate kinase-associated neurodegeneration |
| Age/Examination |
13y (13 years) |
| Age/Diagnosis |
- |
| Age/Onset |
10y |
| Phenotype/Onset |
gait disturbance and vision loss |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-24 19:53:14 +02:00 (CEST) |
| Date last edited |
N/A |
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