LAMA5-related multisystemic syndrome

LAMA5-related multisystemic syndrome is a rare genetic disorder that affects multiple parts of the body. It is characterized by symptoms that begin in infancy and include skin abnormalities such as delayed wound healing, atrophic scars, and dry, brittle hair with mild alopecia. In addition, individuals may experience eye problems like retinal rod degeneration and night blindness, as well as muscle issues including weakness, myalgia, and cramps. Other features of the condition include osteoarthritis, joint laxity, and internal organ prolapse, along with a unique feature sometimes called floating kidney syndrome. There are also challenges with digestion such as malabsorption syndrome and endocrine problems like hypothyroidism. Some evidence suggests that the condition may be more severe in women than in men. This summary is based on one reported family or patient case.

People with LAMA5-related multisystemic syndrome may have signs that affect several systems in the body. Common symptoms include skin issues such as delayed wound healing, atrophic scars, and dry, brittle hair; eye problems like retinal degeneration leading to night blindness; and muscle problems such as weakness, muscle pain, and cramps. Additionally, they may experience joint issues, internal organ prolapse, floating kidney syndrome, difficulties with absorption in the digestive system, and thyroid problems.

This condition is described as a rare genetic disorder. However, details about the specific genetic changes involved or how they lead to the symptoms are not fully described in the current literature.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.