2016/19/4/533/194470 Sir, A 5-month-old boy presented with global developmental delay, generalized looseness of the body, and jerky, chaotic eye movements. [annalsofian.org]

Amongst the molecularly confirmed patients, 13 presented classical PMD forms but clinical phenotypes varied in the severity even amongst siblings. One patient presented a severe connatal form. [ncbi.nlm.nih.gov]

Spongy changes are present in both. As the disease advances, brain weight is reduced and white matter atrophy develops. [neuropathology-web.org]

• Cerebral Palsy

  We describe a classical PMD patient who had been misdiagnosed as cerebral palsy. He had nystagmus and psychomotor delay since infancy and tremor with ataxia developing gradually. [ncbi.nlm.nih.gov]

• Pediatric Disease

  Abstract Pelizaeus-Merzbacher disease (PMD) is a pediatric disease of myelin in the central nervous system and manifests with a wide spectrum of clinical severities. [ncbi.nlm.nih.gov]

• Trisomy 21

  deletions, inversions, duplications, translocations, 4p- (Wolf-Hirshhorn), 5 (cri-du-chat, 5p-), 7, 8, 9 (trisomy 9, 9p-), 11 (11q, 11;22), 13 (trisomy 13, Patau), 14, 15, 16, 17, 18 (18q-, 18p-, ring 18, trisomy 18, tetrasomy 18p, Edwards), 20, 21 [kumc.edu]

• Hiccup

  The less frequent juvenile AD presents with seizures, brainstem dysfunction (dysphagia, dysarthria, hiccups), ataxia, and cognitive deterioration. Adult onset AD is characterized by progressive brainstem dysfunction. [neuropathology-web.org]

• Visual Impairment

  An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, seizures, nystagmus, visual impairment, abnormal movements, and spasticity. [ncbi.nlm.nih.gov]

  impairment / blind Von Hippel-Lindau syndrome Waardenburg syndrome Weaver syndrome Werner syndrome Williams syndrome Wilson disease (hepatolenticular degeneration) Xeroderma pigmentosum Zellweger syndrome Unknown conditions Other information: Adoption [kumc.edu]

• Muscle Hypotonia

  The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of coordination). [contact.org.uk]

  One of the main indicators is abnormal movement of the eyes (horizontal nystagmus), neurological signs of ataxia or various choreoathetotic movements, disruption of mental development, significant muscle hypotonia appears alongside and apart from neurological [kattivatrends.com]

• Psychomotor Retardation

  Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with severe psychomotor retardation and neurological symptoms due to an inborn abnormality of proteolipid protein (PLP), the major protein component of myelin. [ncbi.nlm.nih.gov]

  retardation, involuntary movements, ataxia, and death in the second decade of life. [icd9data.com]

  Patients with the more common infantile form of AD present in the first 2 years of life with psychomotor retardation, megalencephaly, spasticity and seizures. [neuropathology-web.org]

• Nystagmus

  Magnetic search-coil oculography of three brothers with clinically diagnosed Pelizaeus-Merzbacher disease disclosed the presence of binocular elliptical pendular nystagmus in two patients in whom the waveform of the nystagmus was not obvious on inspection [ncbi.nlm.nih.gov]

  Salient features on examination were impaired cognition, pendular nystagmus, axial and appendicular hypotonia with preserved antigravity movements, brisk-deep tendon reflexes, and bilateral upgoing plantars. [annalsofian.org]

  There is nystagmus and weakness, followed by development of ataxia, cognitive delay and spasticity. [patient.info]

• Spastic Paraplegia

  The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the pure form of spastic paraplegia type 2 to a severely disabling form of Pelizaeus-Merzbacher disease featuring [ncbi.nlm.nih.gov]

  Unreviewed - Annotation score: - Experimental evidence at transcript level i Names & Taxonomy i Protein names i Submitted name: Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated), isoform CRA_b Submitted name: Proteolipid [uniprot.org]

• Ataxia

  Pelizaeus-Merzbacher disease (PMD) in its classical form manifests in infancy or early childhood and progresses to severe spasticity and ataxia. The lifespan may be shortened. PMD is due to mutation in the gene PLP1. [medicinenet.com]

  Ataxia is evident once voluntary movements are acquired and affects virtually all patients. In milder cases, the ataxia affects their speech. [patient.info]

  Clinical manifestations of PMD are variable and major features include progressive nystagmus, spasticity, tremor, ataxia, and psychomotor delay. We describe a classical PMD patient who had been misdiagnosed as cerebral palsy. [ncbi.nlm.nih.gov]

  […] which causes ataxia and spasticity and, less frequently, gognitive deterioration, visual impairment and seizures. [neuropathology-web.org]

  An X-linked recessive disorder of myelin formation, characterized by nystagmus, ataxia, spasticity, and developmental delay. [medical-dictionary.thefreedictionary.com]

• Tremor

  Clinical manifestations of PMD are variable and major features include progressive nystagmus, spasticity, tremor, ataxia, and psychomotor delay. We describe a classical PMD patient who had been misdiagnosed as cerebral palsy. [ncbi.nlm.nih.gov]

  The disease is clinically characterized by nystagmus (rhythmical oscillation of the eyes), impaired motor development, tremor, progressive spasticity (increased muscle tone), ataxia (wobbliness), choreoathetotic movements, and dysartria (difficulty speaking [medicinenet.com]

  It is marked by nystagmus, ataxia, tremor, choreoathetoid movements, parkinsonian facies, dysarthria, and mental deterioration. [medical-dictionary.thefreedictionary.com]

• Dysarthria

  Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelination disorder, characterized by significant developmental delay, truncal hypotonia, spasticity, dysarthria, and nystagmus. [ncbi.nlm.nih.gov]

  It is marked by nystagmus, ataxia, tremor, choreoathetoid movements, parkinsonian facies, dysarthria, and mental deterioration. [medical-dictionary.thefreedictionary.com]

• Gliosis

  Postmortem examination of the aborted fetus at 25 weeks' gestation showed focal subcortical white matter degeneration, focal gliosis, and cerebellar atrophy. Genotype-phenotype correlation is provided. [ncbi.nlm.nih.gov]

  No fibrous gliosis is present but there are Alzheimer type 2 astrocytes in the cortex. CD is caused by mutations of ASPA, which encodes the enzyme Aspartoacylase. [neuropathology-web.org]

• White Matter Lesions

  Vanishing white matter disease Vanishing white matter disease. The white matter has a gelatinous appearance. Myelin is absent. Advanced VWMD Advanced VWMD. The white matter has mostly vanished. [neuropathology-web.org]

This review describes PMD pathology and establishment of new clinical treatment for PMD. [ncbi.nlm.nih.gov]

SPG2 - these patients tend to have a normal lifespan. [ 6 ] There may appear to be periods of stability but the prognosis is for gradual deterioration. [patient.info]

When combined with suggestive clinical signs, these abnormalities confirm the diagnosis of Pelizaeus-Merzbacher disease, even in the absence of a familial history, and make it possible to warn the parents of the poor prognosis and the risk of recurrence [ncbi.nlm.nih.gov]

Additional symptoms of PMD may include: Slow growth Tremor Failure to develop normal control of head movement Deteriorating speech and mental function The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive [inman.moneomed.com]

These findings suggested defective myelin synthesis as the etiology of Pelizaeus-Merzbacher disease; comprehensive classifications of the disease are expected to include both pathologic and biochemical parameters. [ncbi.nlm.nih.gov]

Etiology PMD is an X-linked disorder due to mutations or dosage alterations of the PLP1 gene (Xq22) that cause hypomyelination of the central nervous system (CNS). PMD is allelic to SPG2 which is also due to PLP1 mutations. [orpha.net]

Summary Epidemiology The estimated prevalence is 1/400,000. PMD affects males but some female heterozygotes presenting with a milder phenotype have also been reported (PMD in female carriers; see this term). [orpha.net]

Epidemiology [ 6 ] This is a rare disease with an international incidence that is probably between 0.1 and 1 per 100,000 of the population. [patient.info]

Although our MR findings correlate well with the pathophysiology of PMD, the MR characteristics are not specific. The diagnosis of PMD remains one of clinical and laboratory exclusion. [ncbi.nlm.nih.gov]

Although our MR findings correlate well with the pathophysiology of PMD, the MR characteristics are not specific. The diagnosis of PMD remains one of clinical and laboratory exclusion. © Lippincott-Raven Publishers. Related Articles [journals.lww.com]

Mutations that prevent any PLP1 from being made result in a syndrome (PLP1 null syndrome) that is usually milder than classic Pelizaeus-Merzbacher disease. [emedicine.com]

[…] includes medications for seizures and spasticity; physical therapy, exercise, and orthotics for spasticity management; surgery for contractures and scoliosis; gastrostomy for severe dysphagia; proper wheelchair seating, physical therapy, and orthotics to prevent [ncbi.nlm.nih.gov]