Global Variome shared LOVD

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Phenotype #0000165503 Individual ID 00217052 Associated disease MYOP Phenotype details prominent distal weakness, bilateral foot-drop; normal pregnancy; 1y refered ligamentous hyperlaxity; difficulties walking (prominent distal leg muscles weakness); neurologic examination distal lower limbs muscle weakness, bilateral foot drop; mild tendon hyperlaxity, enlarged face with tubular nose; ankle dorsiflexors 2/5 MRC scale; mild scoliosis at growth spurt.; EMG distal myopathic signs; EKG/echocardiography mild mitral/tricuspidal insufficiency; MRI symmetrical lower limb muscle changes predominating in anterior compartment legs; older brother deceased (neonatal period, congenital cardiomyopathy); CPK not elevated (-HP:0003236) Diagnosis/Initial core-rod myopathy Inheritance Isolated (sporadic) Diagnosis/Definite NEM-2 Age/Examination - Age/Diagnosis - Age/Onset 01y Phenotype/Onset ligamentous hyperlaxity Protein - Owner name Lydia Sagath Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-06-06 15:26:46 +02:00 (CEST) Date last edited 2024-03-11 16:27:29 +01:00 (CET)

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