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autosomal dominant centronuclear myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Proximal upper limb amyotrophy, Distal muscle weakness, Generalized hypotonia, and Muscle fibrillation and others; and very common findings: Centrally nucleated skeletal muscle fibers, Areflexia, and Ptosis. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	16	Achilles tendon contracture, Flexion contracture, Distal muscle weakness
Bones and joints	4	Excessive inward curve of the lower back (lumbar hyperlordosis), Excessive inward curvature of the lower spine (hyperlordosis), Centrally nucleated skeletal muscle fibers
Head and neck	3	Facial palsy, Sleepy facial expression, Weakness of facial musculature
Arms and legs	3	Proximal upper limb amyotrophy, Proximal upper limb muscle weakness, Distal lower limb muscle weakness
Lab test results	2	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Mildly elevated creatine kinase
Eyes	1	Ptosis

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autosomal dominant centronuclear myopathy

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Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.

autosomal dominant centronuclear myopathy

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.