Autosomal dominant hereditary disorder
Distal muscular dystrophy
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Laing early-onset distal myopathy (disorder)
Laing early-onset distal myopathy
Distal myopathy type 1
Gowers disease
Disease with characteristics of early-onset selective weakness of the great toe and ankle dorsiflexors and a very slowly progressive course. Age at onset varies from 4 to 5 years to the early twenties. Early weakness of neck flexion is present in all patients. Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. Mild proximal weakness develops more than ten years after the onset of the disease. Caused by mutation of the MYH7 gene (14q11) and transmitted as an autosomal dominant trait.
distale myopathie type 1
juveniele distale myopathie van type Laing
MPD1
ziekte van Gowers-Laing
Id764859001
StatusPrimitive
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
OccurrenceChildhood
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified