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