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autosomal recessive limb-girdle muscular dystrophy type 2Y - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Centrally nucleated skeletal muscle fibers, Decreased forced expiratory flow 25-75%, Increased endomysial connective tissue, and Muscle weakness and others; and common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Camptodactyly of finger, Difficulty climbing stairs, and Distal muscle weakness and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	10	Centrally nucleated skeletal muscle fibers, Difficulty climbing stairs, Distal muscle weakness
Bones and joints	3	Centrally nucleated skeletal muscle fibers, Joint contracture, Contracture of the distal interphalangeal joint of the fingers
Arms and legs	2	Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Heart and blood vessels	1	Premature ventricular contraction
Brain and nerves	1	Spinal rigidity

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autosomal recessive limb-girdle muscular dystrophy type 2Y

Overview

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autosomal recessive limb-girdle muscular dystrophy type 2Y

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team