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autosomal recessive limb-girdle muscular dystrophy type 2C (DMDA1) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Skeletal muscle atrophy, Muscle fiber splitting, Restrictive ventilatory defect, and Increased endomysial connective tissue and others; and common findings: Macroglossia, Broad-based gait, Frequent falls, and Waddling gait and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	19	Skeletal muscle atrophy, Muscle fiber splitting, Flexion contracture
Bones and joints	4	Skeletal muscle atrophy, Sideways curvature of the spine (scoliosis), Excessive inward curvature of the lower spine (hyperlordosis)
Heart and blood vessels	3	Right ventricular dilatation, Right ventricular hypertrophy, Left ventricular systolic dysfunction
Brain and nerves	3	Broad-based gait, Waddling gait, Tip-toe gait
Lungs and breathing	2	Pneumonia, Restrictive ventilatory defect
Arms and legs	2	Upper limb muscle weakness, Tip-toe gait
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Head and neck	1	Long face

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autosomal recessive limb-girdle muscular dystrophy type 2C

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autosomal recessive limb-girdle muscular dystrophy type 2C

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