MFM8
MCID: MYP118
MIFTS: 30

Myopathy, Myofibrillar, 8 (MFM8)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Myofibrillar, 8

MalaCards integrated aliases for Myopathy, Myofibrillar, 8:

Name: Myopathy, Myofibrillar, 8 56 73 29 6
Myofibrillar Myopathy 8 12 15
Mfm8 56 73
Myopathy, Myofibrillar, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in childhood (range infancy to 8 years)


HPO:

31
myopathy, myofibrillar, 8:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



Summaries for Myopathy, Myofibrillar, 8

UniProtKB/Swiss-Prot : 73 Myopathy, myofibrillar, 8: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM8 is an autosomal recessive form, clinically characterized by slowly progressive symmetrical weakness affecting both proximal and distal muscles, with normal to moderately elevated creatine kinase. Mild facial weakness, a high palate, nasal speech, and swallowing difficulties are typical features, mild restrictive lung disease is common, and late-onset cardiac involvement may be present.

MalaCards based summary : Myopathy, Myofibrillar, 8, also known as myofibrillar myopathy 8, is related to spinocerebellar ataxia, autosomal recessive 10 and autosomal recessive limb-girdle muscular dystrophy type 2x. An important gene associated with Myopathy, Myofibrillar, 8 is PYROXD1 (Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1). Affiliated tissues include lung, and related phenotypes are scoliosis and ptosis

Disease Ontology : 12 A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12.

OMIM : 56 Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (617258)

Related Diseases for Myopathy, Myofibrillar, 8

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 8:



Diseases related to Myopathy, Myofibrillar, 8

Symptoms & Phenotypes for Myopathy, Myofibrillar, 8

Human phenotypes related to Myopathy, Myofibrillar, 8:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 ptosis 31 occasional (7.5%) HP:0000508
3 neonatal hypotonia 31 occasional (7.5%) HP:0001319
4 spinal rigidity 31 occasional (7.5%) HP:0003306
5 dental crowding 31 occasional (7.5%) HP:0000678
6 reduced vital capacity 31 occasional (7.5%) HP:0002792
7 distal joint laxity 31 occasional (7.5%) HP:0020152
8 dysphagia 31 HP:0002015
9 facial palsy 31 HP:0010628
10 high palate 31 HP:0000218
11 pes planus 31 HP:0001763
12 micrognathia 31 HP:0000347
13 areflexia 31 HP:0001284
14 pes cavus 31 HP:0001761
15 scapular winging 31 HP:0003691
16 easy fatigability 31 HP:0003388
17 nemaline bodies 31 HP:0003798
18 nasal speech 31 HP:0001611
19 hyporeflexia 31 HP:0001265
20 tall stature 31 HP:0000098
21 neck muscle weakness 31 HP:0000467
22 frequent falls 31 HP:0002359
23 gowers sign 31 HP:0003391
24 difficulty climbing stairs 31 HP:0003551
25 generalized amyotrophy 31 HP:0003700
26 difficulty running 31 HP:0009046
27 respiratory tract infection 31 HP:0011947
28 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia

Head And Neck Face:
micrognathia
facial muscle weakness
elongated face

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Voice:
nasal speech

Head And Neck Neck:
neck muscle weakness

Head And Neck Mouth:
high-arched palate

Respiratory:
respiratory infections
decreased vital capacity, mild (in some patients)

Skeletal Spine:
scoliosis, mild (in some patients)
spinal rigidity (in some patients)

Head And Neck Teeth:
crowded teeth (in some patients)

Skeletal Feet:
pes planus
pes cavus

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
axonal sensory peripheral neuropathy, mild (in 1 family)

Muscle Soft Tissue:
easy fatigability
gowers sign
difficulty climbing stairs
difficulty running
muscle weakness, proximal
more
Growth Height:
tall stature

Neurologic Central Nervous System:
frequent falls
normal or mildly delayed early gross motor development
gait difficulties due to muscle weakness

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
ptosis (in some patients)

Skeletal:
distal joint laxity (in some patients)

Cardiovascular Heart:
decreased ejection fraction (in 1 patient, late-onset)

Clinical features from OMIM:

617258

Drugs & Therapeutics for Myopathy, Myofibrillar, 8

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 8

Genetic Tests for Myopathy, Myofibrillar, 8

Genetic tests related to Myopathy, Myofibrillar, 8:

# Genetic test Affiliating Genes
1 Myopathy, Myofibrillar, 8 29 PYROXD1

Anatomical Context for Myopathy, Myofibrillar, 8

MalaCards organs/tissues related to Myopathy, Myofibrillar, 8:

40
Lung

Publications for Myopathy, Myofibrillar, 8

Articles related to Myopathy, Myofibrillar, 8:

# Title Authors PMID Year
1
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. 56 6
27745833 2016
2
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
3
BAG3-related myofibrillar myopathy in a Chinese family. 6
21361913 2012
4
Myofibrillar Myopathy 6
20301672 2005

Variations for Myopathy, Myofibrillar, 8

ClinVar genetic disease variations for Myopathy, Myofibrillar, 8:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PYROXD1 NM_024854.5(PYROXD1):c.285+1G>ASNV Pathogenic 372278 rs369083786 12:21598401-21598401 12:21445467-21445467
2 PYROXD1 NM_024854.5(PYROXD1):c.1116G>C (p.Gln372His)SNV Pathogenic 372279 rs755208949 12:21615796-21615796 12:21462862-21462862
3 PYROXD1 NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)SNV Pathogenic 372280 rs781565158 12:21605064-21605064 12:21452130-21452130
4 PYROXD1 NM_024854.5(PYROXD1):c.414+1G>ASNV Pathogenic 372281 rs1057518754 12:21602626-21602626 12:21449692-21449692
5 PYROXD1 NM_024854.5(PYROXD1):c.1160_1163dup (p.Lys388fs)duplication Pathogenic 372282 rs1057518755 12:21620457-21620458 12:21467523-21467524
6 PYROXD1 NM_024854.5(PYROXD1):c.1004_1006del (p.Gly335del)deletion Uncertain significance 634627 rs1565554407 12:21615682-21615684 12:21462748-21462750

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 8:

73
# Symbol AA change Variation ID SNP ID
1 PYROXD1 p.Asn155Ser VAR_077902 rs781565158
2 PYROXD1 p.Gln372His VAR_077903 rs755208949

Expression for Myopathy, Myofibrillar, 8

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 8.

Pathways for Myopathy, Myofibrillar, 8

GO Terms for Myopathy, Myofibrillar, 8

Sources for Myopathy, Myofibrillar, 8

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
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43 MeSH
44 MESH via Orphanet
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48 NCI
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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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