Phenotype #0000302401

Individual ID	00410296
Associated disease	MDDGA3;MEB;WWS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	>40y (later than 40 years)
Diagnosis/Definite	dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	institutional care since childhood; magnetic resonance: cobble-stone malformation of the cortex, a thin corpus callosum, lower vermis hypoplasia, brain stem hypoplasia, absent septum pellucidum and ventriculomegaly; 5y: serum creatine kinase: 548 U/L (upper normal 220 U/L); patient profoundly intellectually disabled and unable to communicate, but generally content and peaceful when they are healthy; enjoy being outdoors, being stroked, and holding vibrating sensory toys; small head circumference of about 53 cm (-2SD), ~ 160 cm tall (-1SD), weight fluctuating between 60 and 65 kg; drawn to lack of eye contact and little reaction to their environment apart from laughter provoked by sudden loud noises; dilated pupils and a mature cataract in one eye; mouth open revealing excessively worn teeth due to bruxism; patient almost always cups her chin with her upper limbs, touching her face with her hands; contractures in the upper limb joints (elbow), retained ability to move their limbs and grasp objects. At the age of 20 ability to stand holding a frame (but no longer); clubfoot; now ability to roll from lying on the back onto the side, and when assisted to a sitting position - maintaining this position for some time; neck support in their wheelchair or stroller due to sporadic violent head swings; repeated bowel obstruction; fitted with a gastrostomy tube; bowel function is ensured with medication; antiepileptic monotherapy: lamotrigine - on average weekly short tonic-clonic seizures accompanied by shouting; electroencaphalography during slow-wave-sleep: continuous slow spike-sharp-polyspike-slow wave discharge located in the right temporal lobe, which at times becomes more generalized, during times of wakefulness, irritative activity in the right temporal lobe is evidentperiods of hypothermia (body temperature 31-34degC) with or without any clear infection or without other causes of hypothermia, such as exposure to cold, hypothyroidism, malnutrition or neuroleptic medication - mainly sleeping during these periods. of hypothermia, the women mainly sleep; irregular sleep patterns, and low systolic (76-92 mmHg) and diastolic blood pressure (59-61 mmHg). Hormone treatment has been used to end menstruation
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-23 14:09:53 +02:00 (CEST)
Date last edited	N/A