Laurence–Moon syndrome

Laurence–Moon syndrome (LMS) is a rare autosomal recessive[1] genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities.

The patients with LNMS often experience ataxia, spasticity and contractures, restricting their movements and daily activities.

Therefore, multi-disciplinary approach is required including physical therapies, psychiatric and ophthalmologic consultations, nutrition and well-balanced diet.

Physical therapy aims at improving the strength and ability using assisting tools such as ankle-foot orthitic braces, weight-bearing walkers and regular exercise.

[citation needed] It is named after the physicians John Zachariah Laurence and Robert Charles Moon who provided the first formal description of the condition in a paper published in 1866.

[5] Recent advances in genetic typing of the phenotypically-wide variation in patients clinically diagnosed with either Bardet-Biedl Syndrome (BBS) or Laurence-Moon Syndrome (LMS) have questioned whether LMS and BBS are genetically distinct.

"Two patients [in the study] were diagnosed clinically as LMS but both had mutations in a BBS gene.

Autosomal recessive inheritance