ZASP-related myofibrillar myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: MFM4
ZASPopathy
Number of Symptoms 27
OrphanetNr: 98912
OMIM Id: 609452
ICD-10: G71.8
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: Autosomal dominant distal myopathy
 -Rare genetic disease
 -Rare neurologic disease
Myofibrillar myopathy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of protein ZASP
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002600) Hyporeflexia of lower limbs 13 / 7739
2
 (HPO:0009830) Peripheral neuropathy 206 / 7739
3
 (HPO:0001271) Polyneuropathy 56 / 7739
4
 (HPO:0001637) Abnormality of the myocardium 76 / 7739
5
 (HPO:0001638) Cardiomyopathy 192 / 7739
6
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
7
 (HPO:0003555) Muscle fiber splitting 11 / 7739
8
 (HPO:0009073) Progressive proximal muscle weakness 8 / 7739
9
 (HPO:0003736) Autophagic vacuoles 5 / 7739
10
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
11
 (HPO:0003445) EMG: neuropathic changes 21 / 7739
12
 (HPO:0009063) Progressive distal muscle weakness 4 / 7739
13
 (HPO:0003715) Myofibrillar myopathy 9 / 7739
14
 (OMIM) Muscle biopsy shows myofibrillar changes 1 / 7739
15
 (OMIM) Immunoreactivity for Z-disk proteins 1 / 7739
16
 (OMIM) Isolated necrotic fibers 1 / 7739
17
 (OMIM) Congophilic deposits 1 / 7739
18
 (OMIM) EMG may show neurogenic changes 1 / 7739
19
 (OMIM) EMG shows fibrillation potentials 1 / 7739
20
 (HPO:0003584) Late onset 10 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Z-disk degeneration 2 / 7739
23
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
24
 (OMIM) Patients may have distal or proximal muscle weakness, or both 1 / 7739
25
 (OMIM) Internal nuclei 9 / 7739
26
 (OMIM) Muscle biopsy shows pleomorphic hyaline, granular, and amorphous deposits that stain with Gomori trichrome 1 / 7739
27
 (OMIM) Serum creatine kinase may be normal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Selcen and Engel (2005) reported 11 unrelated patients with MFM. Age at onset ranged from 44 to 73 years (mean, 54 years). All patients presented with muscle weakness except 1 who presented with palpitations and mildly increased serum ...
Molecular genetics OMIM In 11 of 54 unrelated patients with MFM, Selcen and Engel (2005) identified 3 different heterozygous mutations in the ZASP gene (605906.0001-605906.0003).