Living with Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
A rare genetic muscular dystrophy beginning in childhood, with muscle weakness around the hips and shoulders and stiff, tight joints.
Understanding Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Weakness starts in the legs and moves on to the arms and the muscles of the trunk. Over time, people can lose the ability to walk. Joints in the limbs, and sometimes the spine, become tight (contractures). Breathing may be affected to different degrees. The heart muscle is not involved.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes these features:
- Weakness around the hips and shoulders
- Weakness that starts in the legs, then reaches the arms
- Tight joints (contractures) in the limbs
- Tight joints in the spine, sometimes
- Breathing problems, in some
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 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
- 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
- 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
GARD says changes in the TTN gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
Patient organizations
- Muscular Dystrophy AssociationChildhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome · United States
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Perspectives from people navigating life with Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome.
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