Living with Autosomal recessive limb-girdle muscular dystrophy type 2J
An inherited muscle condition with progressive weakness near the center of the body, usually starting in childhood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2J
It usually starts in childhood, but can start anywhere from the first to the third decade of life. Weakness begins in muscles near the center of the body and eventually reaches muscles farther out. Some people can keep walking, but most use a wheelchair about 20 years after onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in upper arm and upper leg muscles
- Weakness in muscles farther out (distal)
- Trouble climbing stairs
- Muscle wasting
- Fat replacing muscle tissue
- Muscular dystrophy
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 TTN 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 TTN 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 2j; autosomal recessive limb-girdle muscular dystrophy caused by mutation in ttn; lgmd type 2j; lgmd2j; lgmdr10; limb-girdle muscular dystrophy 2j titin gene mutation
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2J · United States
- Team TitinAutosomal recessive limb-girdle muscular dystrophy type 2J · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2J · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2J.
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