Congenital myopathy

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

The congenital myopathy is a group of congenital disease of the muscles , which in the first few months of life with muscle weakness and hypotonia noticeable. In the electron microscope to find changes in muscle structure.

The first description of a congenital myopathy comes from the year 1956 by the Americans G. Milton Shy and Kenneth R. Magee.

Spread and cause

The incidence is estimated at 1 in 20,000 newborns. The cause is mutations in various genes .

The most common diseases or groups of diseases are:

• Nemaline myopathy
• Central core myopathy
• Myotubular myopathy
• Myopathy with congenital fiber type disproportion

classification

Different subgroups can be distinguished:

• Congenital muscular dystrophies
• congenital muscle maturation disorders , s. Development of muscle fibers
• congenital structural myopathies

Clinical manifestations

Common clinical criteria are:

• Onset of illness as a child or toddler
• decreased muscle tone, decreased muscle reflexes, general muscle weakness, poorly visible muscles
• Mask face
• only slight deterioration
• hereditary (with familial accumulation)
• often additional signs of dysmorphism
• characteristic changes in the muscle fiber structure

diagnosis

Diagnosis and classification requires a muscle biopsy .

Syndromes

The following diseases can be found in the Orphanet database under congenital myopathies:

• Cap myopathy
• Carey-Fineman-Ziter Syndrome
• Fetal akinesia-cerebral and retinal bleeding syndrome
• Fingerprint body myopathy
• Early onset of myopathy-areflexia-dyspnoea-dysphagia syndrome
• Chudley-Rozdilsky syndromes
• King-Denborough syndrome , synonym: Koussef-Nichols syndrome
• Klippel-Feil anomaly-myopathy-facial dysmorphic syndrome
• Congenital myopathy with myasthenia-like onset
• Samaritan myopathy, congenital
• Actin myopathy
• Myopathy, congenital, with fiber type disproportion
• Myopathy, lethal, congenital, Compton-North type , autosomal recessive, mutations in the CNTN1 gene, chromosome 12 q12
• Myopathy with hexagonally linked tubular aggregates
• Myopathy with tubular aggregates
• Myopathy with cylindrical coils
• Myosin myopathy, autosomal dominant
• Native American myopathy
• Qazi Markouizos Syndrome
• Reducing body myopathy
• Severe hypotension-psychomotor developmental retardation-strabismus-septal defect syndrome
• Zebra corpuscle myopathy

literature

• S. Lutz, B. Stiegler, W. Kress, M. von der Hagen, U. Schara: Kongenitale Strukturmyopathien. An overview. In: Medical Genetics Vol. 3, 2009
• K. North: What's new in congenital myopathies? In: Neuromuscular disorders: NMD. Volume 18, Number 6, June 2008, pp. 433-442, doi: 10.1016 / j.nmd.2008.04.002 , PMID 18482838 (Review).

Individual evidence

1. ↑ Myopathy, congenital. In: Orphanet (Rare Disease Database).
2. ↑ ^{a b} emedicine
3. ^ GM Shy, KR Magee: A new congenital non-progressive myopathy. In: Brain , 1956, Vol. 79, pp. 610-21.
4. ↑ ^{a b} DGM
5. ↑ Up to date
6. ↑ Cap myopathy. In: Orphanet (Rare Disease Database).
7. ↑ Fetal akinesia-cerebral and retinal bleeding syndrome. In: Orphanet (Rare Disease Database).
8. ↑ Early onset of myopathy-areflexia-dyspnoea-dysphagia syndrome. In: Orphanet (Rare Disease Database).
9. ↑ Mental retardation - myopathy - short stature - endocrine disorder. In: Orphanet (Rare Disease Database).
10. ↑ King Denborough Syndrome. In: Orphanet (Rare Disease Database).
11. ↑ Klippel-Feil anomaly-myopathy-facial dysmorphic syndrome. In: Orphanet (Rare Disease Database).
12. ↑ Congenital myopathy with myasthenia-like onset. In: Orphanet (Rare Disease Database).
13. ↑ Myopathy, benign, Samaritan type. In: Orphanet (Rare Disease Database).
14. ↑ Myopathy, congenital, with excess thin filaments. In: Orphanet (Rare Disease Database).
15. ↑ Myopathy, congenital, with fiber type disproportion. In: Orphanet (Rare Disease Database).
16. ^ Myopathy, lethal, congenital, Compton-North type. In: Orphanet (Rare Disease Database).
17. ^ Myopathy, congenital, Compton-North.  In: Online Mendelian Inheritance in Man . (English)
18. ↑ Myopathy with hexagonally linked tubular aggregates. In: Orphanet (Rare Disease Database).
19. ↑ Myopathy with tubular aggregates. In: Orphanet (Rare Disease Database).
20. ↑ Myopathy with cylindrical spirals. In: Orphanet (Rare Disease Database).
21. ↑ myosin myopathy, autosomal dominant. In: Orphanet (Rare Disease Database).
22. ^ Native American myopathy. In: Orphanet (Rare Disease Database).
23. ↑ Qazi-Markouizos Syndrome. In: Orphanet (Rare Disease Database).
24. ^ Reducing body myopathy. In: Orphanet (Rare Disease Database).
25. ↑ Severe hypotension-psychomotor developmental retardation-strabismus-septal defect syndrome. In: Orphanet (Rare Disease Database).
26. ^ Zebra corpuscle myopathy. In: Orphanet (Rare Disease Database).

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !