Leber plus disease

Leber plus disease is a condition seen in people who have the features of Leber's hereditary optic neuropathy (LHON), along with other serious systemic or neurological issues. The term 'plus' is used because, besides the typical eye problems seen in LHON, affected people can also experience a range of additional issues that affect their movement, nerves, and even brain function. These additional issues can include problems like tremors, difficulties with movement, signs that look similar to multiple sclerosis, spinal cord problems, changes in bone structure, and conditions similar to Parkinsonism with dystonia. Information about how often each symptom appears may vary among people with this condition.

People with Leber plus disease may experience vision loss along with other symptoms such as postural tremor, motor disorders, and problems with balance and movement. They can also have additional neurological issues including symptoms resembling multiple sclerosis, spinal cord disease, skeletal changes, and signs of Parkinsonism with dystonia. Other features might include difficulties with speech, muscle stiffness (spasticity), and peripheral neuropathy that affects motor and sensory functions.

Leber plus disease is caused by mutations in mitochondrial DNA. These mutations are passed down from the mother, which means that the condition is inherited maternally.

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.