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]

• 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]

• Turkish

  The molecular basis of the disease was investigated in a cohort of 19 Turkish families. [ncbi.nlm.nih.gov]

  B Bilir, Z Yapici, C Yalcinkaya, I Baris, CMB Carvalho, M Bartnik, B Ozes, M Eraksoy, JR Lupski and E Battaloglu, High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher disease, Clinical Genetics, 83, 1, (66-72), (2013). [doi.org]

• 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]

• 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]

  : Familial laryngeal abductor paralysis and psychomotor retardation. Clin Genet 1973 ;4:429-433. Google Scholar Crossref Medline Ulrich J., Herschkowitz N. : Seitelberger's connatal form of Pelizaeus-Merzbacher disease. [journals.sagepub.com]

• Neonatal Onset

  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]

• 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]

  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]

• Ataxia

  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]

  English Pelizaeus-Merzbacher disease hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has material basis in mutation in the PLP1 gene on chromosome Xq22 Leukodystrophy [wikidata.org]

• 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]

• 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]

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

Treatment [ edit ] This section needs to be updated. [en.wikipedia.org]

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]