These issues can vary depending on the symptoms that manifest in a specific individual and the severity of those symptoms, which is ultimately determined based on where the individual is situated on the L1 syndrome spectrum.Spasticity is one of the most common signs of L1 syndrome and is seen in all four major clinical phenotypes. It is characterized as the continuous contraction of certain muscles, leading to muscle stiffness which can interfere with normal movement and speech. In three of the major phenotypes (except HSAS), this spasticity is presented as spastic paraplegia, where the muscles of the lower limbs are stiff and continuously contracted. This spastic paraplegia often manifests itself as a gait (walking motion) disorder, specifically shuffling gait in MASA syndrome patients, which acts as a source of impairment and stress due to postural instability, and leads to poor quality of life and increased mortality.Aphasia is also a common disorder, especially in people with MASA syndrome (a disorder on the L1 syndrome spectrum) and describes a range of language impairments with respect to syntax (structure), semantics (meaning), phonology (sound), morphology (structure), and/or pragmatics in language comprehension or expression. People with aphasia, as well as their family members, often experience a poor quality of life due to the social isolation and depression caused by this language impairment and therefore may seek therapy to enable functional and socially relevant communication.
Lung infarction occurs when an artery to the lung becomes blocked and part of the lung dies. It is most often caused by pulmonary embolism. Because of the dual blood supply to the lungs from both the bronchial circulation and the pulmonary circulation, this tissue is more resistant to infarction. An occlusion of the bronchial circulation does not cause infarction, but it can still occur in pulmonary embolism when the pulmonary circulation is blocked and the bronchial circulation cannot fully compensate for it. References


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