Autosomal recessive axonal neuropathy with neuromyotonia

disorder

SNOMED 711406009CUI C5700127

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.

Delayed relaxation of muscle fibres after contraction

Very frequent (80-99%)HP:0002486

Distal muscle weakness in lower limbs

Very frequent (80-99%)HP:0009053

EMG: chronic denervation signs

Very frequent (80-99%)HP:0003444

EMG: myokymic discharges

Very frequent (80-99%)HP:0100288

Loss of distal sensation

Very frequent (80-99%)HP:0002936

Myokymia

Very frequent (80-99%)HP:0002411

Peripheral nerve hyperexcitability

Very frequent (80-99%)HP:0034351

Absent Achilles reflex

Frequent (30-79%)HP:0003438

Distal motor neuropathy

Frequent (30-79%)HP:0007002

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

Fatigable weakness of distal limb muscles

Frequent (30-79%)HP:0030198

Foot deformity

Frequent (30-79%)HP:0001760

Frequent falls

Frequent (30-79%)HP:0002359

Gait disturbance

Frequent (30-79%)HP:0001288

Grip myotonia

Frequent (30-79%)HP:0012899

Limb fasciculation

Frequent (30-79%)HP:0007289

Muscle cramps with exertion

Frequent (30-79%)HP:0003710

Peripheral motor neuropathy

Frequent (30-79%)HP:0007178

Poor exercise tolerance

Frequent (30-79%)HP:0003546

Reduced tendon reflexes

Frequent (30-79%)HP:0001315

Achilles tendon contracture

Occasional (5-29%)HP:0001771

Areflexia

Occasional (5-29%)HP:0001284

Distal sensory impairment of all modalities

Occasional (5-29%)HP:0003409

Distal sensory loss, especially vibratory sense

Occasional (5-29%)HP:0002166

Exercise-induced leg cramps

Occasional (5-29%)HP:0008991

Flexion contractures

Occasional (5-29%)HP:0001371

Hand muscle atrophy

Occasional (5-29%)HP:0009130

Inability to heel walk

Occasional (5-29%)HP:0009027

Intrinsic hand muscle atrophy

Occasional (5-29%)HP:0008954

Loss of ambulation

Occasional (5-29%)HP:0002505

Related Conditions

Neuromyotonia(parent)

Hereditary disorder of nervous system(parent)

Recessive hereditary disorder (autosomal)(parent)

Peripheral axonal neuropathy(parent)

Quick Facts

SNOMED CT: 711406009
UMLS CUI: C5700127
Fully Specified Name: Autosomal recessive axonal neuropathy with neuromyotonia (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.