Living with Autosomal recessive limb-girdle muscular dystrophy type 2K
An inherited muscle condition with slowly worsening weakness and developmental delay, starting in childhood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2K
Weakness near the center of the body starts in childhood, with tiredness and trouble running and climbing stairs. All people with it have a mild intellectual disability and a small head, without a clear brain structure difference. Some have mild enlarged muscles and tight ankles.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in upper arm and upper leg muscles
- Trouble climbing stairs
- Waddling walk
- Small head size (microcephaly)
- Delayed speech and language
- Intellectual disability
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 POMT1 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
It is caused by changes in the POMT1 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 type 2k; autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt1; lgmd type 2k; lgmd-pomt1 related; lgmd2k; limb girdle muscular dystrophy with intellectual disability syndrome
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2K · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2K · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2K.
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