Hereditary motor and sensory neuropathy Okinawa type

disorder

SNOMED 715665006CUI C1858338

Overview

Hereditary motor and sensory neuropathy Okinawa type 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.

Abnormal peripheral action potential amplitude

Very frequent (80-99%)HP:0030179

Absent tendon reflexes

Very frequent (80-99%)HP:0001284

Coughing

Very frequent (80-99%)HP:0012735

Fatiguable weakness of proximal limb muscles

Very frequent (80-99%)HP:0030200

Intermittent painful muscle spasms

Very frequent (80-99%)HP:0011964

Lower limb muscle weakness

Very frequent (80-99%)HP:0007340

Sensory impairment

Very frequent (80-99%)HP:0003474

Upper limb muscle weakness

Very frequent (80-99%)HP:0003484

Abnormal cranial nerve physiology

Frequent (30-79%)HP:0031910

Abnormality of the urinary system

Frequent (30-79%)HP:0000079

Bulbar signs

Frequent (30-79%)HP:0002483

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

EMG: positive sharp waves

Frequent (30-79%)HP:0030007

Hyperglycemia

Frequent (30-79%)HP:0003074

Inability to walk

Frequent (30-79%)HP:0002540

Limb fasciculation

Frequent (30-79%)HP:0007289

Loss of distal sensation

Frequent (30-79%)HP:0002936

Standing instability

Frequent (30-79%)HP:0003698

Tremor

Frequent (30-79%)HP:0001337

Twitching

Frequent (30-79%)HP:0010546

Abnormal glucose homeostasis

Occasional (5-29%)HP:0011014

Abnormal lower cranial nerve function

Occasional (5-29%)HP:0410262

Abnormality of the facial nerve

Occasional (5-29%)HP:0010827

Aspiration pneumonia

Occasional (5-29%)HP:0011951

Deglutition disorder

Occasional (5-29%)HP:0002015

Hyperlipidemia

Occasional (5-29%)HP:0003077

Nasogastric tube feeding in infancy

Occasional (5-29%)HP:0011470

Panting

Occasional (5-29%)HP:0002094

Respiratory distress requiring endotracheal intubation

Occasional (5-29%)HP:0004887

Respiratory failure

Occasional (5-29%)HP:0002878

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary motor and sensory neuropathy(parent)

Quick Facts

SNOMED CT: 715665006
UMLS CUI: C1858338
Fully Specified Name: Hereditary motor and sensory neuropathy Okinawa type (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.