1. Mendelian
  2. Rare Diseases
  3. MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

Myopathy, Centronuclear, 6, With Fiber-type Disproportion; Cnm6

Table of contents:

Description

CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Genes related to Myopathy, Centronuclear, 6, With Fiber-type Disproportion; Cnm6

  • MAP3K20

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Clinical Features

Top most frequent phenotypes and symptoms related to Myopathy, Centronuclear, 6, With Fiber-type Disproportion; Cnm6

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Fatigue
  • Dysphagia
  • Myopathy
  • Proximal muscle weakness

And another 15 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, Centronuclear, 6, With Fiber-type Disproportion; Cnm6 Recommended genes panels

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Specificity
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Genes
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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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