Additionally, although physical signs of chronic liver dysfunction may not be present, many people experience liver impairment leading to liver failure.In MDDS associated with mutations in PEO1/C10orf2 that primarily affect the brain and the liver, symptoms emerge shortly after birth or in early infancy, with hypotonia, symptoms of lactic acidosis, enlarged liver, feeding problems, lack of growth, and delay of psychomotor skills. Neurologically, development is slowed or stopped, and epilepsy emerges, as do sensory problems like loss of eye control and deafness, and neuromuscular problems like a lack of reflexes, muscular atrophy, and twitching, and epilepsy.In MDDS associated with mutations in the genes associated with mutations in ECGF1/TYMP  that primarily affects the brain and the gastrointestinal tract, symptoms can emerge any time in the first fifty years of life; most often they emerge before the person turns 20. Weight loss is common as is a lack of the ability of the stomach and intestines to automatically expand and contract and thus move through it (called gastrointestinal motility) – this leads to feeling full after eating only small amounts of food, nausea, acid reflux,  All affected individuals develop weight loss and progressive gastrointestinal dysmotility manifesting as early satiety, nausea, diarrhea, vomiting, and stomach pain and swelling. People also develop neuropathy, with weakness and tingling. There are often eye problems, and intellectual disability. Causes
MDDS is caused by mutations that may be inherited from the parents or may form spontaneously during development of the fetus.
Medical imaging
Though clinical examination in experienced hands can be accurate, the diagnosis is usually confirmed by magnetic resonance imaging, which provides images of the soft tissues like ligaments and cartilage around the knee. It may also permit visualization of other structures which may have been coincidentally involved, such as the menisci or collateral ligaments. An x-ray may be performed in addition to evaluate whether one of the bones in the knee joint was broken during the injury.MRI is perhaps the most used technique for diagnosing the state of the ACL, but it is not always the most reliable technique as the ACL can be obscured by blood that fills the joint after an injury. Arthrometers/Laximeters
Another form of evaluation that may be used in case physical examination and MRI are inconclusive is laximetry testing (i.e. arthrometry and stress imaging), which involve applying a force to the leg and quantifying the resulting displacement of the knee. These medical devices basically replicate manual tests but offer objective assessments. The GNRB arthrometer, for example, is a knee arthrometer that is considered more effective than the Lachman test. Classification
An injury to a ligament is called a sprain. The American Academy of Orthopedic Surgeons defines ACL injury in terms of severity and classifies them as Grade 1, 2, or 3 sprains. Grade 1 sprains occur when the ligament is stretched slightly but the stability of the knee joint is not affected.