Living with Congenital muscular dystrophy due to LMNA mutation
A rare genetic muscle condition that causes weak muscles from infancy, with neck weakness and a stiff spine.
Understanding Congenital muscular dystrophy due to LMNA mutation
Weak muscle tone and muscle wasting begin very early in life. Weakness shows up in infancy or early childhood and can worsen quickly. Neck muscles weaken first, so the head may fall forward. Other features include a stiff, curved spine, tight joints, and a higher risk of heart rhythm problems. Over time, weak chest muscles can cause trouble eating and breathing, and many children need a machine to help them breathe (mechanical ventilation).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Muscle wasting (atrophy)
- Poor head control
- Stiff spine and tight joints (contractures)
- Feeding difficulties
- Breathing trouble (respiratory insufficiency)
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 LMNA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 LMNA gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: congenital muscular dystrophy caused by mutation in lmna; congenital muscular dystrophy due to lamin a/c mutation; congenital muscular dystrophy due to lmna (lamin a/c) mutation; congenital muscular dystrophy lmna-related; congenital muscular dystrophy, lmna-related; l-cmd
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital muscular dystrophy due to LMNA mutation.
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