PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS

General Information (adopted from Orphanet):

Synonyms, Signs: PNMHH
Number of Symptoms 28
OrphanetNr:
OMIM Id: 614369
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
2
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
3
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
4
(HPO:0001618) Dysphonia 28 / 7739
5
(HPO:0001265) Hyporeflexia 208 / 7739
6
(HPO:0001337) Tremor 200 / 7739
7
(HPO:0001284) Areflexia 198 / 7739
8
(HPO:0009830) Peripheral neuropathy 206 / 7739
9
(HPO:0001760) Abnormality of the foot 96 / 7739
10
(HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
11
(HPO:0001609) Hoarse voice 53 % [HPO:skoehler] 34 / 7739
12
(HPO:0001608) Abnormality of the voice 126 / 7739
13
(HPO:0003693) Distal amyotrophy 118 / 7739
14
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
15
(HPO:0001324) Muscle weakness 859 / 7739
16
(HPO:0002460) Distal muscle weakness 122 / 7739
17
(OMIM) Peroneal nerves show severely reduced CMAPs 1 / 7739
18
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
(OMIM) Proximal weakness of the lower limbs with longer disease duration 1 / 7739
20
(HPO:0003676) Progressive disorder 148 / 7739
21
(OMIM) Nerve conduction studies show mildly reduced or normal sensory values 1 / 7739
22
(OMIM) Endomysial fibrosis 4 / 7739
23
(OMIM) Variation of fiber size and shape 1 / 7739
24
(OMIM) Fiber type grouping 2 / 7739
25
(OMIM) Subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions 1 / 7739
26
(OMIM) MRI shows fatty replacement 1 / 7739
27
(OMIM) Muscle biopsy shows small rounded fibers 1 / 7739
28
(OMIM) Degenerating fibers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Choi et al. (2011) reported a large 5-generation Korean family with a complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals developed distal muscle weakness at a mean ...
Molecular genetics OMIM By candidate gene sequencing in the 19q13.3 linkage region for the phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss, Choi et al. (2011) identified a heterozygous mutation in the MYH14 gene (608568.0006).