Mitochondrial membrane protein associated neurodegeneration

disorder

SNOMED 709415008CUI C3280371

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.

Abnormal retropulsion test

Very frequent (80-99%)HP:0002172

Behavioural disorders

Very frequent (80-99%)HP:0000708

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Muscle rigidity

Very frequent (80-99%)HP:0002063

Muscle weakness

Very frequent (80-99%)HP:0001324

tremors in hands

Very frequent (80-99%)HP:0002378

Abnormal globus pallidus morphology

Frequent (30-79%)HP:0002453

Abnormality of the substantia nigra

Frequent (30-79%)HP:0045007

Anal incontinence

Frequent (30-79%)HP:0002607

Corticospinal signs

Frequent (30-79%)HP:0007256

Deglutition disorder

Frequent (30-79%)HP:0002015

Distal motor neuropathy

Frequent (30-79%)HP:0007002

Dystonic movements

Frequent (30-79%)HP:0001332

Frequent falls

Frequent (30-79%)HP:0002359

Generalised dystonia

Frequent (30-79%)HP:0007325

Hyperactive deep tendon reflexes

Frequent (30-79%)HP:0006801

Loss of ambulation

Frequent (30-79%)HP:0002505

Optic atrophy

Frequent (30-79%)HP:0000648

Oromandibular dystonia

Frequent (30-79%)HP:0012048

Parkinsonian disease

Frequent (30-79%)HP:0001300

Slowness of movements

Frequent (30-79%)HP:0002067

Spastic paraparesis

Frequent (30-79%)HP:0002313

Urinary incontinence

Frequent (30-79%)HP:0000020

Abnormal saccadic eye movements

Occasional (5-29%)HP:0000570

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Mental and motor retardation

Occasional (5-29%)HP:0001263

Shuffled walk

Occasional (5-29%)HP:0002362

Eye of the tiger anomaly of globus pallidus

Very rare (1-4%)HP:0002454

Respiratory function loss

Very rare (1-4%)HP:0002093

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 709415008
UMLS CUI: C3280371
Fully Specified Name: Mitochondrial membrane protein associated neurodegeneration (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.