Living with Autosomal dominant limb-girdle muscular dystrophy type 1H
An inherited muscle condition with slowly worsening weakness that begins in the legs and later reaches the arms.
Understanding Autosomal dominant limb-girdle muscular dystrophy type 1H
Weakness starts in the lower limbs and later reaches the upper limbs, with thinning of the hip and shoulder muscles, reduced reflexes, and enlarged calves. Creatine kinase, a muscle enzyme, is raised. The muscles of the face, eyes, throat, and heart are not involved.
Signs & symptoms
GARD lists these among the less common symptoms:
- Slowly worsening weakness near the center of the body
- Thinning of hip and shoulder muscles
- Enlarged calf muscles
- Reduced reflexes
- Raised creatine kinase on blood tests
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Muscular Dystrophy Association and The Speak Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Muscular Dystrophy Association, The Speak Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says this condition is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough to cause it. It doesn't list a specific gene here.
Also known as: lgmd1h; limb-girdle muscular dystrophy, type 1h; muscular dystrophy limb-girdle type 1h
Patient organizations
- Muscular Dystrophy AssociationAutosomal dominant limb-girdle muscular dystrophy type 1H · United States
- The Speak FoundationAutosomal dominant limb-girdle muscular dystrophy type 1H · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant limb-girdle muscular dystrophy type 1H.
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