Laminopathy
Laminopathies (lamino- + -opathy) are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. They are included in the more generic term nuclear envelopathies that was coined in 2000 for diseases associated with defects of the nuclear envelope. Since the first reports of laminopathies in the late 1990s, increased research efforts have started to uncover the vital role of nuclear envelope proteins in cell and tissue integrity in animals.
| Laminopathy | |
|---|---|
| Normal nuclear lamina (a and b) and mutant nuclear lamina (c and d) from a patient with HGPS, visualized by immunofluorescence - note the irregular and bumpy shape of the laminopathic nuclei | |
| Specialty | Clinical Genetics |
| Symptoms | Muscle weakness, reduced sensation, shortness of breath, syncope |
| Complications | Diabetes, heart failure, arrhythmias |
| Usual onset | Variable |
| Duration | Lifelong |
| Causes | Genetic |
| Diagnostic method | Clinical, genetic testing |
| Treatment | Physiotherapy, orthopaedic surgery, pacemaker, implantable defibrillator |
| Medication | ACE inhibitor, beta blocker, aldosterone antagonist |
| Prognosis | Variable |
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