Phenotype #0000042909

Individual ID	00056271
Associated disease	IBM
Phenotype details	history immune thrombocytopenic purpura (HP:0001973, like elder brother), hypothyroidism (HP:0000821); bilateral foot drop (HP:0009027), positive Gower's sign (HP:0003391), significant weakness lower extremities (HP:0007340), muscle testing 5/5 strength quadriceps, 3/5 other proximal/distal muscles lower extremities, 4/5 upper extremities proximal muscles, 5/5 flexor pollicise lunges, 2/5 flexor digit rum profoundus, intact sensation and cranial nerve; EMG left biceps/deltoid muscles normal motor unit interference pattern, low amplitude, short duration motor unit action potential without abnormal spontaneous activity. Left tibialis anterior revealed a few polyphasic motor unit action potentials, nerve conduction in normal limits; CPK increased 347 IU/L (32-267) (HP:0003236); biopsy muscle rimmed vacuolar myopathy (HP:0003805), no inflammatory infiltrate
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	48y (48 years)
Age/Diagnosis	-
Age/Onset	28y
Phenotype/Onset	weakness lower extremities, progressed gradually to upper limbs
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-12-09 04:59:59 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD