Living with Limb-girdle muscular dystrophy due to POMK deficiency
An inherited muscle condition starting in infancy with weak muscles, late walking, and mild facial weakness.
Understanding Limb-girdle muscular dystrophy due to POMK deficiency
Babies have muscle weakness and delayed motor skills, learning to walk at around 18 months. Weakness in the muscles near the center of the body slowly progresses. The calf muscles can look enlarged, the face may be mildly weak, and intelligence may be in the borderline range.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness of the hip and shoulder muscles
- Delayed walking
- Trouble climbing stairs
- Gowers sign (using hands to push up from the floor)
- Low muscle tone as a newborn
- Borderline 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 POMK 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 POMK gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: lgmd due to pomk deficiency; limb girdle muscular dystrophy due to pomk deficiency; limb girdle muscular dystrophy due to protein o-mannose kinase deficiency; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12; muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related
Patient organizations
- The Speak FoundationLimb-girdle muscular dystrophy due to POMK deficiency · United States
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Perspectives from people navigating life with Limb-girdle muscular dystrophy due to POMK deficiency.
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