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Autosomal dominant centronuclear myopathy

disorder
SNOMED 716696006CUI C1834558

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Distal limb muscle weakness due to peripheral neuropathy
Always present (100%)HP:0002460
Distal muscle weakness in lower limbs
Always present (100%)HP:0009053
EMG: myotonic discharges
Always present (100%)HP:0100284
EMG: positive sharp waves
Always present (100%)HP:0030007
Proximal upper limb amyotrophy
Always present (100%)HP:0008948
Symmetrical, proximal limb muscle atrophy
Always present (100%)HP:0007126
Areflexia
Very frequent (80-99%)HP:0001284
Central nuclei
Very frequent (80-99%)HP:0003687
Abnormality of the foot musculature
Frequent (30-79%)HP:0001436
Achilles tendon contracture
Frequent (30-79%)HP:0001771
Delayed gross motor development
Frequent (30-79%)HP:0002194
Elevated circulating creatine phosphokinase
Frequent (30-79%)HP:0003236
EMG: myopathic changes
Frequent (30-79%)HP:0003458
Extraocular muscle palsy
Frequent (30-79%)HP:0000597
Eyelid ptosis
Frequent (30-79%)HP:0000508
Fetal macrosomia
Frequent (30-79%)HP:0001520
Flaccid neck
Frequent (30-79%)HP:0000467
Gait disturbance
Frequent (30-79%)HP:0001288
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Hydramnios
Frequent (30-79%)HP:0001561
Increased lumbar lordosis
Frequent (30-79%)HP:0002938
Large skull present at birth
Frequent (30-79%)HP:0004488
Less than 10 fetal movements in 12 hours
Frequent (30-79%)HP:0001558
Mildly elevated creatine kinase
Frequent (30-79%)HP:0008180
Proximal limb muscle weakness
Frequent (30-79%)HP:0003701
Proximal muscle weakness in lower limbs
Frequent (30-79%)HP:0008994
Proximal muscle weakness in upper limbs
Frequent (30-79%)HP:0008997
Slender ribs
Frequent (30-79%)HP:0000883
Twitching
Frequent (30-79%)HP:0010546
Type 1 muscle fiber predominance
Frequent (30-79%)HP:0003803

Related Conditions

Autosomal dominant hereditary disorder(parent)
Myotubular myopathy(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
716696006
UMLS CUI
C1834558
Fully Specified Name
Autosomal dominant centronuclear myopathy (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.