Sometimes athetotic movements (involuntary writhing) Sometimes dystonic posturing (abnormal fixed posture) Sometimes vocal paralysis in severe cases Spasticity (stiffness or increased muscle tone hypotonia progresses to spasticity) Molecular confirmation can be obtained by genetic testing for DNA variants (mutations) of the proteolipid protein 1 gene ( PLP1) that include both DNA sequence variants and copy number changes (See Genetics of PMD section). It is estimated that PMD affects 1 in 200,000 to 1 in 500,000 live births.ĭiagnosis of PMD/SPG2 is usually made by a neurologist based on family history (when available) and clinical examination with the aid of magnetic resonance imaging (MRI). In PMD, the myelin doesn’t form properly and some nerve impulses are slowed so they reach their target more slowly than normal, while some leak out and do not reach their target at all. This is similar to how we use insulation on electric cords. The myelin sheath provides insulation for axons so that nerve impulses can be transmitted rapidly from neuron to neuron without leaking out. The cell membrane on the outside of the oligodendrocyte wraps around axons forming a myelin sheath surrounding fibers that project from a different cell type, the neuron (nerve cell). Myelin is produced by cells in the brain called oligodendrocytes (see Figure 1). The white matter, which is in the central part of the brain, is mostly made of a fatty substance called myelin. They belong to a group of diseases of the white matter called leukodystrophies. Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia 2 (SPG2) are genetic diseases of the central nervous system (brain and spinal cord) caused by mutations of a gene called the proteolipid protein 1 gene (PLP1). The description of this family provides the clinical, genetic and pathological basis for Pelizaeus-Merzbacher Disease (PMD): an X-linked disorder of myelin classically characterized by nystagmus, spastic quadriparesis, ataxia and cognitive delay in early childhood. Pathological analysis of brain tissue from one affected individual showed that most of the central white matter generally lacked histochemical staining for myelin, the fat and protein based substance that acts as an insulator for nerve conductors in the Central Nervous System (CNS). In addition, he noted that the disease was passed exclusively through the female line without father-to-son transmission. In 1910, another German physician named Merzbacher reexamined this family, which then included 14 affected individuals including two girls, and found that all affected family members shared a common female ancestor. ( To note: one can find other reasons why to take this course in firms where it's possible to book the exam (for instances APMG International and Humentum).In 1885, a German physician named Pelizaeus described five boys in a single family with involuntary oscillatory eye movement, spasticity in the limbs, very limited head and trunk control, and delay in cognitive development. Project stakeholders report benefits from increased transparency,Ĭommon vocabulary and improved project outcomes. Reporting, and more confident project and program staff. NGOs using PMD Pro report improved cost management, enhanced donor NGOs using PMD Pro report reduced delays because PMD Pro tools helpĭevelopment staff define project risks and goals, assess progress, and When it comes to the benefits for PMD Pro, PM4NGOs states the following three The main difference between PMD Pro and PMP is that the first works with means of impact measurement, human development, quality of life and risk mitigation that are not commonly used in the business market hence why it appeared. PMD Pro is an adaptation of the PMBOK (Project Management Body Of Knowledge) methodology and other successful business methodologies to the social sector reality.īased on the PMI (Project Management Institute), the methodology systematizes the concepts and techniques of project management, teaching how to apply project management concepts to the specific context of social projects. PMD Pro (Project Management for Development Professionals) was developed in partnership with PM4NGOs (Project Management for NGOs), an organization dedicated to optimizing international project investments and improving professional project management skills in the development sector.
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