PMDL/PMLD(Pelizaeus-Merzbacher Disease Like or Pelizaeus-Merzbacher Like Disease.)
The diagnosis given to individuals who are similar to PMD males. Those who are diagnosed as PMDL/PMLD can be male or female. They express some of the symptoms of PMD such as nystagmus, delayed milestones and lack of myelin. But generally they are higher functioning physically. They may have a mutation of the PLP (Proteolipid Protein Gene) but it is not exactly clear how the PLP mutations "cause" PMD. Because many insurance companies and parents insist on a diagnosis some professionals will automatically label any individual with a mutation of the PLP gene as PMD. We have seen this with individuals who have Spastic Paraphrases, also referred to as SPG2, a disease that also affects the PLP gene. But SPG2 does not fit the clinical picture of PMD. Many individuals who are diagnosed as PMDL/PMLD are females. Because PMD is an X linked disease it unlikely females (carriers) would express symptoms of the disease. But carriers of PMD are not exempt from having other disabilities that have nothing to do with the fact they are carriers of the mutated PLP gene. As researchers are making great strides in studying the human genome, they have not unlocked all the details of how all the genes work together to cause or prevent diseases like PMD/PMDL/PMLD or SPG2.
The diagnosis given to individuals who are similar to PMD males. Those who are diagnosed as PMDL/PMLD can be male or female. They express some of the symptoms of PMD such as nystagmus, delayed milestones and lack of myelin. But generally they are higher functioning physically. They may have a mutation of the PLP (Proteolipid Protein Gene) but it is not exactly clear how the PLP mutations "cause" PMD. Because many insurance companies and parents insist on a diagnosis some professionals will automatically label any individual with a mutation of the PLP gene as PMD. We have seen this with individuals who have Spastic Paraphrases, also referred to as SPG2, a disease that also affects the PLP gene. But SPG2 does not fit the clinical picture of PMD. Many individuals who are diagnosed as PMDL/PMLD are females. Because PMD is an X linked disease it unlikely females (carriers) would express symptoms of the disease. But carriers of PMD are not exempt from having other disabilities that have nothing to do with the fact they are carriers of the mutated PLP gene. As researchers are making great strides in studying the human genome, they have not unlocked all the details of how all the genes work together to cause or prevent diseases like PMD/PMDL/PMLD or SPG2.
