Pelizaeus-Merzbacher Disease
PMD

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Leukodystrophy nervous 100 % 24532200 2015-03-20
Nystagmus nervous 91 % 24532200 2015-03-20
Hypotonia nervous 79 % 24532200 2015-03-20
Spasticity nervous 66 % 24532200 2015-03-20
Hyperactive reflexes nervous 60 % 24532200 2015-03-20
Quadriplegia nervous 51 % 24532200 2015-03-20
Dysphagia nervous 23 % 24532200 2015-03-20
Hearing loss nervous 23 % 24532200 2015-03-20
Seizures nervous 19 % 24532200 2015-03-20
Developmental delay nervous 17 % 24532200 2015-03-20
Rigidity nervous 11 % 24532200 2015-03-20
Athetosis nervous 9 % 24532200 2015-03-20
Cerebral atrophy nervous 9 % 24532200 2015-03-20
Dystonia nervous 6 % 24532200 2015-03-20
Cerebellar atrophy nervous 2 % 24532200 2015-03-20



List of references:


Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
Yurika Numata, Leo Gotoh, Akiko Iwaki, Kenji Kurosawa, Jun-Ichi Takanashi, Kimiko Deguchi, Toshiyuki Yamamoto, Hitoshi Osaka, Ken Inoue,

To determine the epidemiological, clinical, and genetic characteristics of congenital hypomyelinating leukodystrophies, including Pelizaeus-Merzbacher disease (PMD), we conducted a nationwide epidemiological survey in Japan. A two-step survey targeting all medical institutions specializing in pediatric neurology and childhood disability (919 institutes) in Japan was performed. Detailed information was collected for 101 patients (86 males and 15 females) with congenital hypomyelinating leukodystrophies. The prevalence of congenital hypomyelinating disorders was 0.78 per 100,000 people (0-19 years old), and the incidence was 1.40 per 100,000 live births. Molecular testing was performed in 75 % of patients, and PLP1 gene abnormalities were observed in 62 %. The incidence of PMD with PLP1 mutations was estimated to be 1.45 per 100,000 male live births and that for congenital hypomyelinating disorders with unknown cause to be 0.41 per 100,000 live births. Patients with PLP1 mutations showed a higher proportion of nystagmus and hypotonia, both of which tend to disappear over time. Our results constitute the first nationwide survey of congenital hypomyelinating disorders, and provide the epidemiological, clinical, and genetic landscapes of these disorders.

Journal of neurology - Apr 2014