Lower motor neuron degeneration with Paget-like bone disease

disorder

SNOMED 703544004CUI C1833662

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.

Back pain

Always present (100%)HP:0003418

Hip-girdle muscle weakness

Always present (100%)HP:0003749

Muscle weakness, progressive, proximal

Always present (100%)HP:0009073

Pelvic girdle amyotrophy

Always present (100%)HP:0008946

Pelvic girdle muscle wasting

Always present (100%)HP:0008988

Quadriparesis

Always present (100%)HP:0002273

Distal limb muscle weakness due to peripheral neuropathy

Very frequent (80-99%)HP:0002460

Elevated serum creatine phosphokinase

Very frequent (80-99%)HP:0003236

EMG: myopathic changes

Very frequent (80-99%)HP:0003458

Increased variation in muscle fibre size

Very frequent (80-99%)HP:0003557

Paget disease of bone

Very frequent (80-99%)HP:0034159

Prominent swayback

Very frequent (80-99%)HP:0003307

Proximal neurogenic muscle weakness

Very frequent (80-99%)HP:0003701

Rimmed vacuoles

Very frequent (80-99%)HP:0003805

Ubiquitin-positive cerebral inclusion bodies

Very frequent (80-99%)HP:0012083

Waddling gait

Very frequent (80-99%)HP:0002515

Abnormality of the backbone

Frequent (30-79%)HP:0000925

Brain degeneration

Frequent (30-79%)HP:0012444

Breakdown of bone

Frequent (30-79%)HP:0002797

Decreased body height

Frequent (30-79%)HP:0004322

Elevated alkaline phosphatase

Frequent (30-79%)HP:0003155

Frontotemporal dementia

Frequent (30-79%)HP:0002145

Hip pain

Frequent (30-79%)HP:0030838

Loss of ambulation

Frequent (30-79%)HP:0002505

Shoulder girdle muscle wasting

Frequent (30-79%)HP:0003724

Shoulder weakness

Frequent (30-79%)HP:0003547

Abnormal motor neuron morphology

Occasional (5-29%)HP:0002450

Abnormal shape of long bone

Occasional (5-29%)HP:0011314

Abnormality of cranium

Occasional (5-29%)HP:0002683

Acalculia

Occasional (5-29%)HP:0002442

Related Conditions

Autosomal dominant hereditary disorder(parent)

Myopathy with cytoplasmic inclusions(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 703544004
UMLS CUI: C1833662
Fully Specified Name: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (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.