Phenotype #0000302400

Individual ID	00410295
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; 1y: serum creatine kinase: 141 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; ocular examination under anesthesia in: subluxation of the lenses in the eye without a cataract, initially raising suspicions of a tumor and iris rubeosis; mouth open revealing excessively worn teeth due to bruxism; patient holds her hands in her lap; contractures in the upper limb joints (knuckles); 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; eats pureed food with a spoon but requires assistance with drinking; bowel function is ensured with medication; antiepileptic monotherapy: levetiracetam; no epileptic seizure for years; electroencaphalography registration of wakefulness: a high frequency of high-amplitude discharges located in the frontal parts in addition to generalized slowing; periods 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; 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