Phenotype #0000143975

Individual ID	00183245
Associated disease	MFM
Phenotype details	onset 8y, stable in childhood, mild progression from teenage years, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (UL,LL, axial; P UL, D LL); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), no high arched palate (-HP:0000218); dysphagia (HP:0002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081), 3x
Diagnosis/Initial	myofibrillar myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MFM-8
Age/Examination	31y (31 years)
Age/Onset	08y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-10-19 06:50:23 +02:00 (CEST)
Date last edited	2019-03-08 08:50:02 +01:00 (CET)

Global Variome shared LOVD