ZASP (Z-band alternatively spliced PDZ motif protein) related myofibrillar myopathy

disorder

SNOMED 770558006CUI C1836155

Overview

ZASP (Z-band alternatively spliced PDZ motif protein) related myofibrillar myopathy 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.

Fatigable weakness of distal limb muscles

Frequent (30-79%)HP:0030198

Intrinsic hand muscle atrophy

Frequent (30-79%)HP:0008954

Muscle weakness, progressive, proximal

Frequent (30-79%)HP:0009073

Abnormality of the cardiovascular system

Occasional (5-29%)HP:0001626

Ankle weakness

Occasional (5-29%)HP:0031374

Leg muscle stiffness

Occasional (5-29%)HP:0008969

Weakness of long finger extensor muscles

Occasional (5-29%)HP:0009077

Weakness of the intrinsic hand muscles

Occasional (5-29%)HP:0009005

Wrist drop

Occasional (5-29%)HP:0031189

Decreased patellar reflex

Very rare (1-4%)HP:0011808

Disease of the heart muscle

Very rare (1-4%)HP:0001638

Gait disturbance

Very rare (1-4%)HP:0001288

Heart block

Very rare (1-4%)HP:0012722

Hyporeflexia at ankle joints

Very rare (1-4%)HP:0009072

Inability to heel walk

Very rare (1-4%)HP:0009027

Left ventricular impairment

Very rare (1-4%)HP:0005162

Limb-girdle muscle weakness

Very rare (1-4%)HP:0003325

Muscle weakness, generalised

Very rare (1-4%)HP:0003324

Neuropathy

Very rare (1-4%)HP:0009830

Proximal muscle weakness in upper limbs

Very rare (1-4%)HP:0008997

Related Conditions

Autosomal dominant hereditary disorder(parent)

Myofibrillar myopathy(parent)

Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 770558006
UMLS CUI: C1836155
Fully Specified Name: Late-onset distal myopathy Markesbery Griggs type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.