Myopathy, Myofibrillar, 8; Mfm8

Description

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 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Myopathy, Myofibrillar, 8; Mfm8

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties
  • Peripheral neuropathy
  • Dysphagia
  • Myopathy

And another 32 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Myopathy, Myofibrillar, 8; Mfm8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Myofibrillar myopathy and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

MYOT, ACTA1, DNAJB6, LDB3, CRYAB, PYROXD1, KY, DES, FHL1, FLNC, BAG3
Specificity
10 %
Genes
100 %
Myofibrillar myopathy and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

MYOT, ACTA1, DNAJB6, LDB3, CRYAB, PYROXD1, KY, DES, FHL1, FLNC, BAG3
Specificity
10 %
Genes
100 %
Myofibrillar myopathy and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

MYOT, ACTA1, DNAJB6, LDB3, CRYAB, PYROXD1, KY, DES, FHL1, FLNC, BAG3
Specificity
10 %
Genes
100 %

You can get up to -5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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