Phenotype #0000302402
| Individual ID |
00410297 |
| Associated disease |
MDDGA3;MEB;WWS |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Initial |
- |
| Age/Examination |
6y (6 years) |
| Diagnosis/Definite |
dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| Age/Diagnosis |
- |
| Age/Onset |
0m |
| Phenotype/Onset |
- |
| Phenotype details |
delivery: scheduled Cesarean section due to high myopia; birth weight: 3650 g, height: 52 cm; hypotonia at birth; motor milestones: delayed: held head by 7 months, rolled from back to side at 8 months, put into sitting position by 24 months, walked with support at 2,5 years, walked independently at 4 years; speech development: delayed: 6y non-verbal. 8m: hospitalized, brain computed tomography: signs of leukodystrophy and cortical atrophy of frontal, parietal and temporal areas; 13m: brain magnetic resonance imaging: signs of leukodystrophy, lissencephaly of left occipital lobe, polymicrogyria of both frontal lobes, secondary ventriculomegaly, brain atrophic changes with enlargement of sub-arachnoid spaces; biochemical analysis: creatine kinase: 2024 U/L (normal range 25-140 U/L), alanine aminotransferase (ALT): 59 U/L (upper limit of normal 40 U/L), aspartate aminotransferase (AST): 82 U/L (upper limit of normal 42 U/L), lactate dehydrogenase (LDH): 318 U/L (upper limit of normal 225 U/L); electromyography: signs of primary muscle lesion. 6y: weight 21 kg, height 113 cm, head circumference 53 cm; convergent strabismus, insufficiency of convergence and accommodation; hypotonia, distal more than proximal, trunk ataxia, walking on the toes with an atactic component, flat valgus foot reacted; able to maintain short-term eye contact; speech is misunderstood; face - hypomimic; behavioral features: periodic fading with subsequent rapidity of breathing and stereotyped swings of hands, orthopedic examination revealed thoracic hypokyphosis, lumbar hyperlordosis, double-sided coxa valga, pathological antetorsion on the right, equinox flat valgus feet; limb movements were not restricted except for restriction of back flexion in the ankles; ophthalmological examination: congenital high myopia, partial atrophy of an optic nerve and retinal atrophy in both eyes; magnetic resonance imaging: hypoplasia of temporal lobes and opercular areas from two sides, hypoplasia of caudal parts of the cerebellum worm with the expansion of external subarachnoid spaces of the cerebral hemispheres (more in the temporal areas), expansion of retrocerebellar cistern, symmetrical expansion of the ventricular system, pachygyria-polymicrogyria of cerebral hemispheres with preservation of the occipital lobe; cerebellum: multiple small cysts, hypoplasia of the corpus callosum and pons with the extension of the anterior and covering cisterns are revealed; biochemical analysis: CK - 2253 U/L , ALT - 70,4 U/L, AST - 62 U/L, LDH - 503 U/L; other blood and urine indicators: normal; level of CK was increased 10-15 times and for two years decreased from 3126 (3 years 4 months) to 1986 (at 5 years 2 months). creatine kinase-muscle/brain: 61.1 (upper limit of normal 25 U/L); electroneuromyography: signs of primary muscle; motor unit potentials (MUP) were short in duration and low in amplitude. The number of polyphasic MUP has increased. Spontaneous activity in each test muscle- electroencephalography - no epileptiform activity; electrocardiogram: vertical position of the electrical heart axis, mild bradycardia and arrhythmia, nonspecific intraventricular block, early repolarization syndrome of the ventricles; karyotype: normal; tandem mass spectrometry: no changes in the plasma level of amino acids and acylcarnitines |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-23 14:58:28 +02:00 (CEST) |
| Date last edited |
N/A |
|
