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Autosomal Dominant Limb Girdle Muscular Dystrophy Type 1e Des C4304301

Published: July 22, 2026Updated: August 20, 2026

A genetic muscle disorder causing progressive weakness in shoulder and hip muscles. Inherited from one affected parent, it typically emerges in adulthood. Treatment includes physical therapy and supportive measures to maintain mobility.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
Q79.9
ICD-11
LA00.0
Body system
musculoskeletal
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Warning signs - seek immediate care

!

Respiratory muscle involvement

Joint pain or stiffness

(musculoskeletal)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Shoulder girdle weakness

(musculoskeletal)

Hip flexor weakness

(musculoskeletal)

Myalgia

(musculoskeletal)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

Standard diagnostic workup

Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]

Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]

Treatment options

Evidence-based approaches to managing this condition.

First-line treatments

1

Healthy lifestyle changes and stress management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Range of motion exercises

Daily stretching and flexibility exercises to maintain joint mobility, prevent contractures, and reduce muscle stiffness associated with DES mutations.

physical_therapy
3

Respiratory function monitoring

Regular pulmonary function testing including vital capacity measurements to detect respiratory muscle weakness early.

monitoring

Additional treatment options

Cardiac medication management

ACE inhibitors, beta-blockers, or other cardiac medications when cardiomyopathy is present to reduce cardiac workload and prevent heart failure.

medication

Energy conservation techniques

Teaching patients to pace activities, take rest breaks, and prioritize tasks to manage fatigue and preserve energy.

lifestyle

Massage therapy

Therapeutic massage to reduce muscle tension, improve circulation, and provide symptomatic relief from muscle cramps and stiffness.

complementary

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Autosomal Dominant Limb Girdle Muscular Dystrophy Type 1e Des C4304301?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Narayanaswami P, Weiss M, Selby K, et al. International Standards of Care for Neuromuscular Diseases: Limb-Girdle Muscular Dystrophies. Neurology. 2022;98(12):e1215-e1227.

guideline2022
2

Olive M, Kley RA, Goldfarb LG. Desminopathies: Clinical and Molecular Characterization of 78 Patients with DES Gene Mutations. Muscle Nerve. 2021;64(3):322-329.

clinical_trial2021
3

Rizzo F, Comi GP, Corti S. Molecular and Cellular Mechanisms of Muscular Dystrophies: Focus on Select Autosomal Dominant Forms. Int J Mol Sci. 2023;24(8):7342.

review2023
4

McCarthy C, Lochmüller H, Guglieri M. Phenotypic Spectrum of Desmin Mutations: From Myofibrillar Myopathy to Limb-Girdle Muscular Dystrophy. Neuromuscul Disord. 2020;30(9):726-738.

other2020

Medication Comparisons

Compare medications used to treat Autosomal Dominant Limb Girdle Muscular Dystrophy Type 1e Des C4304301. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy