Living with Autosomal recessive limb-girdle muscular dystrophy type 2U
A rare inherited muscle condition with slowly worsening weakness, starting from infancy to childhood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2U
It starts in infancy or childhood and slowly gets worse. Children may use their hands to push up from the floor (Gowers sign). Joints and Achilles tendons can tighten, and the thighs, calves, or tongue can become larger. Brain, heart, and eye features vary widely.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in shoulder and hip muscles
- Muscle wasting
- Enlarged calf muscles
- Enlarged tongue (macroglossia)
- Changes in how a protein (alpha-dystroglycan) is processed
- Heart differences (cardiovascular)
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 CRPPA 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
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: 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 The Speak Foundation
- 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
It is caused by changes in the CRPPA gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive limb girdle muscular dystrophy due to ispd deficiency; autosomal recessive limb girdle muscular dystrophy type 2u; autosomal recessive limb-girdle muscular dystrophy caused by mutation in ispd; autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency; ispd autosomal recessive limb-girdle muscular dystrophy; ispd-related lgmd r20
Patient organizations
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2U · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2U.
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