CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 606842
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005986) Limitation of neck motion 1 / 7739
2
(HPO:0001315) Reduced tendon reflexes 160 / 7739
3
(HPO:0001265) Hyporeflexia 208 / 7739
4
(HPO:0002936) Distal sensory impairment 96 / 7739
5
(HPO:0001284) Areflexia 198 / 7739
6
(HPO:0008483) Cervical vertebral bodies with decreased anteroposterior diameter 1 / 7739
7
(HPO:0004575) Fusion of midcervical facet joints 1 / 7739
8
(HPO:0004571) Widening of cervical spinal canal 2 / 7739
9
(HPO:0005185) Global systolic dysfunction 3 / 7739
10
(HPO:0001638) Cardiomyopathy 192 / 7739
11
(HPO:0002093) Respiratory insufficiency 410 / 7739
12
(HPO:0002094) Dyspnea 132 / 7739
13
(HPO:0003798) Nemaline bodies 12 / 7739
14
(HPO:0003690) Limb muscle weakness 41 / 7739
15
(OMIM) Dyspnea, progressive 2 / 7739
16
(OMIM) Mild distal sensory deficits 1 / 7739
17
(OMIM) Type I fibers with large, irregularly polygonal congophilic hyaline masses and nemaline rods consistent with nonlysosomal protein degradation 1 / 7739
18
(OMIM) EMG shows fibrillation potentials and mixed myopathic and neurogenic motor unit potentials 1 / 7739
19
(HPO:0003745) Sporadic 131 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Selcen et al. (2002) described a sister and brother with adult-onset muscle weakness that was greater distally than proximally, as well as respiratory insufficiency, cardiomyopathy, and cervical spine anomalies. Both had lifelong limitation of neck motions, and both ...