Atrophy of tongue
Autosomal recessive hereditary disorder
Chronic digestive system disorder
Chronic disease of musculoskeletal system
Digestive system hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary myopathy
Kyphosis deformity of spine
Myofibrillar myopathy
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Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder)
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.
syndroom van kyfose, laterale atrofie van tong en myofibrillaire myopathie
syndroom van kyfose, laterale tongatrofie en myofibrillaire myopathie
Id1172591008
StatusPrimitive
Clinical courseProgressive
Finding siteSkeletal muscle structure
Associated morphologyAtrophy
Finding siteStructure of lateral margin of tongue
Associated morphologyAnteroposterior abnormal curvature
Finding siteMusculoskeletal structure of spine
ICD-10 complex map reference set
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified