The goal of this observational study is to learn about the natural history and multi-organ involvement of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) in pediatric and adult patients. The main questions it aims to answer are:
* What is the prevalence and nature of cardiac involvement, and how do this relate to age and muscular phenotype? * What is the prevalence of peripheral neuropathy, and how do this relate to age and muscular phenotype? * What is the extent of respiratory, nutritional, skeletal, and cognitive/brain involvement, particularly in adults with more severe vs less severe phenotypes? * How does quality of life and transition to adulthood occur in individuals with LAMA2-RD? * Which nomenclature best reflects differences in disease severity and may support future clinical trial design?
Study participants will:
* Undergo retrospective and prospective clinical assessments every 12 months for 2 years across multiple centers. * A subset of adult participants (n=20) will receive cardiac MRI with contrast enhancement. * Provide biological samples during routine blood testing for future research.
Two causative mutations in the LAMA2 gene or Muscle biopsy with absence of
merosin (laminin-211) and at least one causative mutation in the LAMA2 gene or
Consistent phenotype and affected siblings with criteria a) or b) and
Ability to participate in study visits at least every 12 months during a 24 months period.
None
Adult and pediatric patients affected by LAMA2-RD
Cohort
Other
Cardiac MRI
Other interventionOn a subset of adult patients
Rhythm abnormalities
Prsence or absence of rhythm abnormalities (Brady arrhythmia, supraventricular and ventricular tachyarrhythmia) as detected by ECG and 24-hour Holter ECG
Cardiac function
Left ventricular end-diastolic volume (LVEDV) and left ventricular ejection fraction (LVEF) measured by transthoracic echocardiogram
Cardiac inflammation and fibrosis
Cardiac inflammation and fibrosis by cardiac Magnetic Resonance Imaging (MRI) (only in adult patients)
Motor outcome 1
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) (0-2 years); maximum score 64
Motor outcome 2
Motor Function Measure (MFM20 2-5 years; maximum score 60; MFM32 ≥ 5 years; maximum score 96)
Motor outcome 3 (Upper limbs)
Upper limbs function: Performance upper limb module 2.0. (PUL 2.0); maximum score 42
Motor outcome 4 (Timed tests)
6 minutes walk test (6MWT) - metres
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