Living with Autosomal recessive limb-girdle muscular dystrophy type 2N
An inherited muscle condition with weakness that shows up in infancy, usually with normal or mildly affected learning.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2N
Weakness shows up as slowness in running. Other features include enlarged calves, mild swayback, and winged shoulder blades. Intelligence is normal or there is a mild intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness near the center of the body
- Delayed motor skills
- Trouble climbing stairs
- Weakness that tires easily
- Specific learning disability
- Wasting of muscles near the body
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 POMT2 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 POMT2 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 2n; autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt2; lgmd type 2n; lgmd-pomt2 related; lgmd2n; limb-girdle muscular dystrophy type 2n
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2N · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2N · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2N.
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