Living with Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
An adult-onset muscle condition with slowly worsening weakness in the hips and thighs, but no heart or breathing problems.
Understanding Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Weakness mostly affects the muscles around the pelvis, with little or no involvement of the shoulders. There are no heart or breathing symptoms. Blood tests often show mildly to moderately raised creatine kinase (a muscle enzyme), and walking is often affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the muscles around the hips
- Trouble climbing stairs
- Walking difficulties
- Trouble swallowing
- Unclear speech (dysarthria)
- Generalized muscle weakness
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
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in DNAJB6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association and The Speak Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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 changes in the DNAJB6 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant limb-girdle muscular dystrophy caused by mutation in dnajb6; autosomal dominant limb-girdle muscular dystrophy type 1d; dnajb6 autosomal dominant limb-girdle muscular dystrophy; dnajb6-related lgmd d1; dnajb6-related limb-girdle muscular dystrophy d1; lgmd type 1d
Patient organizations
- Muscular Dystrophy AssociationAutosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) · United States
- The Speak FoundationAutosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6).
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