PELIZAEUS-MERZBACHER DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs: LEUKODYSTROPHY, HYPOMYELINATING, 1
PMD
HLD1
Number of Symptoms 43
OrphanetNr:
OMIM Id: 312080
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0000639) Nystagmus obligate [HPO] 3598129 IBIS 555 / 7739
3
(HPO:0000648) Optic atrophy frequent [HPO] 3598129 IBIS 238 / 7739
4
(HPO:0001583) Rotary nystagmus 7 / 7739
5
(HPO:0000365) Hearing impairment occasional [HPO:skoehler] 539 / 7739
6
(HPO:0002361) Psychomotor deterioration obligate [HPO] 3598129 IBIS 26 / 7739
7
(HPO:0007256) Abnormal pyramidal signs hallmark [HPO] 116 / 7739
8
(HPO:0001249) Intellectual disability 1089 / 7739
9
(HPO:0001265) Hyporeflexia 4/7 [HPO] 3598129 IBIS 208 / 7739
10
(HPO:0001257) Spasticity 251 / 7739
11
(HPO:0000750) Delayed speech and language development typical [HPO] 197 / 7739
12
(HPO:0001337) Tremor 200 / 7739
13
(HPO:0002015) Dysphagia common [HPO] 18485258 IBIS 301 / 7739
14
(HPO:0001263) Global developmental delay hallmark [HPO] 18485258 IBIS 853 / 7739
15
(HPO:0001260) Dysarthria common [HPO] 329 / 7739
16
(HPO:0002599) Head titubation typical [HPO] 3598129 IBIS 7 / 7739
17
(HPO:0001250) Seizures occasional [HPO] 18485258 IBIS 1245 / 7739
18
(HPO:0002168) Scanning speech 10 / 7739
19
(HPO:0001266) Choreoathetosis common [HPO] 57 / 7739
20
(HPO:0001332) Dystonia hallmark [HPO] 3598129 IBIS 197 / 7739
21
(HPO:0002478) Progressive spastic quadriplegia hallmark [HPO] 7 / 7739
22
(HPO:0001251) Ataxia hallmark [HPO] 3598129 IBIS 413 / 7739
23
(HPO:0001508) Failure to thrive typical [HPO] 454 / 7739
24
(HPO:0004322) Short stature typical [HPO] 1232 / 7739
25
(HPO:0010307) Stridor 19 / 7739
26
(HPO:0004886) Congenital laryngeal stridor occasional [HPO] 3 / 7739
27
(HPO:0001324) Muscle weakness 859 / 7739
28
(HPO:0001252) Muscular hypotonia hallmark [HPO] 990 / 7739
29
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
30
(HPO:0010547) Muscle flaccidity 466 / 7739
31
(OMIM) Absent myelination of the brain (severe connatal form) 1 / 7739
32
(OMIM) Dysmyelination of the brain, myelin is not formed properly 1 / 7739
33
(HPO:0100709) Reduction of oligodendroglia common [HPO] 1 / 7739
34
(OMIM) Hearing impairment may occur 1 / 7739
35
(OMIM) Rotary head movements ('rolling,' 'tremor') 1 / 7739
36
(OMIM) Diffuse white matter hyperintensities on T2-weighed imaging 1 / 7739
37
(HPO:0001419) X-linked recessive inheritance 189 / 7739
38
(HPO:0003677) Slow progression hallmark [HPO] 134 / 7739
39
(OMIM) Progressive pyramidal and cerebellar signs 1 / 7739
40
(OMIM) Decreased or absent brainstem auditory evoked potentials (BAEP) of waves III-V 1 / 7739
41
(HPO:0007266) Cerebral dysmyelination 13 / 7739
42
(HPO:0003269) Sudanophilic leukodystrophy common [HPO] 3598129 IBIS 3 / 7739
43
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005).

- ...

Clinical Description OMIM Tyler (1958) noted that at first, rotary movements of the head and eyes develop but curiously may later disappear. Affected children in these families were sometimes described as 'head nodders' and 'eye waggers.' Spasticity of the legs and ...
Genotype-Phenotype Correlations OMIM Cailloux et al. (2000) investigated 52 PMD and 28 SPG families without large PLP duplications or deletions by PCR amplification and sequencing of the 7 coding regions and splice sites of the PLP1 gene. Abnormalities were identified in ...
Molecular genetics OMIM Cremers et al. (1987) found an insertional translocation into the proximal long arm of the X chromosome in a boy who showed findings typical of PMD at autopsy. Duplication of Xq21-q22 was identified using a large number of ...
Population genetics OMIM In a retrospective hospital- and clinic-based study involving 122 children with an inherited leukodystrophy, Bonkowsky et al. (2010) found that the most common diagnoses were metachromatic leukodystrophy (250100) (8.2%), Pelizaeus-Merzbacher disease (7.4%), mitochondrial diseases (4.9%), and adrenoleukodystrophy (300100) ...