Living with Ullrich congenital muscular dystrophy
A genetic muscle condition with weakness from birth, stiff knees and elbows, and very loose wrists and ankles.
Understanding Ullrich congenital muscular dystrophy
People have muscle weakness soon after birth, tight joints (contractures) in the knees and elbows, and unusually loose wrists and ankles. It is noticed in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness from birth
- Low muscle tone (hypotonia)
- Tight joints (contractures) in the knees and elbows
- Very loose wrists and fingers
- Hip dislocation
- Frequent falls
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.
- 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 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
- 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
This condition is caused by changes in the COL6A1, COL6A2, and COL6A3 genes. It is typically autosomal recessive, and rarely autosomal dominant.
Also known as: congenita hypotonic - sclerotic muscular dystrophy; congenital muscular dystrophy, ullrich type; scleroatonic muscular dystrophy; scleroatonic ullrich disease; ucmd; ullrich disease
Patient organizations
- Muscular Dystrophy AssociationUllrich congenital muscular dystrophy · United States
- Cure CMD - Congenital Muscular DystrophyUllrich congenital muscular dystrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Ullrich congenital muscular dystrophy.
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