MCID: LTN022
MIFTS: 13

Late-Onset Distal Myopathy, Markesbery-Griggs Type

Categories: Rare diseases

Aliases & Classifications for Late-Onset Distal Myopathy, Markesbery-Griggs Type

MalaCards integrated aliases for Late-Onset Distal Myopathy, Markesbery-Griggs Type:

Name: Late-Onset Distal Myopathy, Markesbery-Griggs Type 52
Zasp-Related Myofibrillar Myopathy 52

Classifications:



Summaries for Late-Onset Distal Myopathy, Markesbery-Griggs Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98912 Definition A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. Visit the Orphanet disease page for more resources.

MalaCards based summary : Late-Onset Distal Myopathy, Markesbery-Griggs Type, also known as zasp-related myofibrillar myopathy, is related to myopathy, myofibrillar, 4 and miyoshi muscular dystrophy. Affiliated tissues include heart, and related phenotypes are fatigable weakness of distal limb muscles and progressive proximal muscle weakness

Related Diseases for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Diseases related to Late-Onset Distal Myopathy, Markesbery-Griggs Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 4 11.9
2 miyoshi muscular dystrophy 10.4
3 myofibrillar myopathy 10.4
4 myopathy 10.4

Symptoms & Phenotypes for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Human phenotypes related to Late-Onset Distal Myopathy, Markesbery-Griggs Type:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 fatigable weakness of distal limb muscles 31 frequent (33%) HP:0030198
2 progressive proximal muscle weakness 31 frequent (33%) HP:0009073
3 intrinsic hand muscle atrophy 31 frequent (33%) HP:0008954
4 weakness of the intrinsic hand muscles 31 occasional (7.5%) HP:0009005
5 leg muscle stiffness 31 occasional (7.5%) HP:0008969
6 weakness of long finger extensor muscles 31 occasional (7.5%) HP:0009077
7 ankle weakness 31 occasional (7.5%) HP:0031374
8 wrist drop 31 occasional (7.5%) HP:0031189
9 gait disturbance 31 very rare (1%) HP:0001288
10 generalized muscle weakness 31 very rare (1%) HP:0003324
11 peripheral neuropathy 31 very rare (1%) HP:0009830
12 heart block 31 very rare (1%) HP:0012722
13 cardiomyopathy 31 very rare (1%) HP:0001638
14 proximal muscle weakness in upper limbs 31 very rare (1%) HP:0008997
15 limb-girdle muscle weakness 31 very rare (1%) HP:0003325
16 foot dorsiflexor weakness 31 very rare (1%) HP:0009027
17 decreased patellar reflex 31 very rare (1%) HP:0011808
18 left ventricular dysfunction 31 very rare (1%) HP:0005162
19 decreased achilles reflex 31 very rare (1%) HP:0009072

Drugs & Therapeutics for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Search Clinical Trials , NIH Clinical Center for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Genetic Tests for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Anatomical Context for Late-Onset Distal Myopathy, Markesbery-Griggs Type

MalaCards organs/tissues related to Late-Onset Distal Myopathy, Markesbery-Griggs Type:

40
Heart

Publications for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Articles related to Late-Onset Distal Myopathy, Markesbery-Griggs Type:

# Title Authors PMID Year
1
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. 61
27546599 2017

Variations for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Expression for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Search GEO for disease gene expression data for Late-Onset Distal Myopathy, Markesbery-Griggs Type.

Pathways for Late-Onset Distal Myopathy, Markesbery-Griggs Type

GO Terms for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Sources for Late-Onset Distal Myopathy, Markesbery-Griggs Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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