Nemaline myopathy

Classification according to ICD-10
G71.2	Congenital myopathies Nemaline myopathy
ICD-10 online (WHO version 2019)

As nemaline myopathy is a rare muscle disease from the group of congenital myopathies referred, which was first described in 1963. Characteristic for the disease is the detection of thread-like ( Greek νῆμα nema ) and rod-like structures in muscle biopsy.

clinic

The spectrum is wide. The most common forms of muscle hypotension at birth (“ floppy infant ”) and delayed motor development are found. Most sufferers, however, acquire the ability to walk independently; the course is usually only slowly progressing.

histology

In the muscle biopsy, especially in the Gömöri trichrome staining, clusters of the characteristic rod-shaped and thread-shaped structures can be seen. Interestingly, these changes had already been noticed by the pathologist Ralph D. Douglas Kenneth Reye in 1958 in a muscle biopsy of a three-year-old with delayed motor development. However, the changes were then wrongly classified as an artifact by a colleague who had been sent the case for a second opinion .

genetics

The disease is genetically extremely heterogeneous. Were described

• Mutations of the tropomyosin 3 gene, TPM3 (nemalin myopathy 1; autosomal dominant inheritance)
• Mutations of the nebulin gene, NEM2 (nemalin myopathy-2; autosomal recessive inheritance)
• Mutations of the alpha actin gene, ACTA1 (nemalin myopathy 3)
• Mutations of the tropomyosin-2 gene, TPM2 (nemalin myopathy-4)
• Mutations of the troponin T1 gene, TNNT1 (Nemalin myopathy-5; Amish- Nemalin myopathy)
• Mutation of an as yet unknown gene on chromosome 15q (nemalin myopathy 6)
• Mutations of the cofilin-2 gene, CFL2 (nemalin myopathy-7)
• Mutations of the leiomodin 3 gene (nemalin myopathy 10)

Web links

• Light and electron microscopic images in Nemaline myopathies

Individual evidence

1. ↑ Shy et al .: Nemaline myopathy. A new congenital myopathy brain. 1963; 86: 793-810. PMID 14090530 .
2. ↑ Schnell et al .: An artefact gone awry ': Identification of the first case of nemaline myopathy by Dr RDK Reye, Neuromuscul Disord. 2000; 10: 307-312 PMID 10838259 .
3. ↑ Nemaline myopathy-1.  In: Online Mendelian Inheritance in Man . (English).
4. ↑ Nemaline myopathy-2.  In: Online Mendelian Inheritance in Man . (English).
5. ^ Nemaline myopathy-3.  In: Online Mendelian Inheritance in Man . (English).
6. ↑ Nemaline myopathy-4.  In: Online Mendelian Inheritance in Man . (English).
7. ^ Nemaline myopathy-5.  In: Online Mendelian Inheritance in Man . (English).
8. ^ Nemaline myopathy-6.  In: Online Mendelian Inheritance in Man . (English).
9. ^ Nemaline myopathy-7.  In: Online Mendelian Inheritance in Man . (English).
10. ↑ Nemaline myopathy-10.  In: Online Mendelian Inheritance in Man . (English).

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