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Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome

disorder
SNOMED 1179294000CUI C5568137

Overview

Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Absent Achilles reflex
Always present (100%)HP:0003438
Absent deep tendon reflexes
Always present (100%)HP:0001284
Achilles tendon contracture
Always present (100%)HP:0001771
Biceps hyporeflexia
Always present (100%)HP:0033201
Brachioradialis hyporeflexia
Always present (100%)HP:0033202
Cardiovascular disease
Always present (100%)HP:0001626
Central nuclei
Always present (100%)HP:0003687
Decreased patellar reflex
Always present (100%)HP:0011808
Diabetes mellitus
Always present (100%)HP:0000819
Difficulty walking up stairs
Always present (100%)HP:0003551
Distal muscle weakness in lower limbs
Always present (100%)HP:0009053
Elevated liver enzymes
Always present (100%)HP:0002910
EMG: myopathic changes
Always present (100%)HP:0003458
EMG: neuropathic changes
Always present (100%)HP:0003445
Falls
Always present (100%)HP:0002527
Fatty replacement of skeletal muscle
Always present (100%)HP:0012548
Fiber type grouping
Always present (100%)HP:0033685
Foot pain
Always present (100%)HP:0025238
Gait disturbance
Always present (100%)HP:0001288
Hand muscle weakness
Always present (100%)HP:0030237
High blood pressure
Always present (100%)HP:0000822
Hyperuricaemia
Always present (100%)HP:0002149
Hypoacusis
Always present (100%)HP:0000365
Impaired heel-walking ability
Always present (100%)HP:6000490
Inability to heel walk
Always present (100%)HP:0009027
Increased endomysial connective tissue
Always present (100%)HP:0100297
Increased lumbar lordosis
Always present (100%)HP:0002938
Increased size of calf muscles
Always present (100%)HP:0008981
Increased variation in muscle fibre size
Always present (100%)HP:0003557
Joint contracture
Always present (100%)HP:0034392

Related Conditions

Autosomal dominant distal hereditary motor neuropathy(parent)
Myoneural disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Myofibrillar myopathy(parent)

Quick Facts

SNOMED CT
1179294000
UMLS CUI
C5568137
Fully Specified Name
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (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.