Mitochondrial myopathy

Classification according to ICD-10
G71.3	Congenital myopathies
ICD-10 online (WHO version 2019)

The mitochondrial myopathy is a group of rare congenital myopathies with a muscle weakness due to a mitochondrial disease .

According to the Orphanet database , these include the following diseases and syndromes :

Adenosine monophosphate deaminase deficiency
Barth syndrome
Defect of the mitochondrial trifunctional protein
MNGIE syndrome
Isolated respiratory chain defect in complex I.
Kearns-Sayre Syndrome
Congenital cataract-progressive hypotension-hearing loss-developmental delay syndrome
MELAS syndrome
MERRF syndrome
Mitochondrial DNA deletion syndrome with progressive myopathy
Mitochondrial myopathy - lactic acidosis - hearing loss
MLASA
Mitochondrial myopathy-cerebellar ataxia-pigment retinopathy syndrome
Mitochondrial DNA depletion syndrome, myopathic form
Multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency in adults
Neuropathy, sensory-atactic - dysarthria - ophthalmoplegia
Ophthalmoplegia, chronic external progressive, maternally inherited
Ophthalmoplegia, chronic external progressive, with mitochondrial myopathy, adult form
Progressive external ophthalmoplegia-myopathy-cachexia syndrome
Succinate coenzyme Q reductase deficiency, more isolated

A common feature of this neuromuscular disease is the stress-dependent muscle weakness. In addition to the skeletal muscles , the heart ( cardiomyopathy ) and the eye muscles can also be affected.

A diagnostic feature to use when examining a muscle biopsy is ragged red fibers .

Mitochondrial myopathies can also occur in veterinary medicine , e.g. B. the German Shepherd .

literature

K. Muehlenberg, A. Fiedler, I. Schaumann, W. Müller-Felber, KH Wiedmann: Intestinal pseudo-obstruction and gastric wall necrosis in mitochondrial myopathy. In: German Medical Weekly . Volume 127, Number 12, March 2002, pp. 611-615, doi: 10.1055 / s-2002-22669 , PMID 11907863 .
H. Reichmann: Mitochondrial Myopathy. In: German Medical Weekly . Volume 117, Number 17, April 1992, p. 681, PMID 1572253 .
AE Vincent, YS Ng, K. White, T. Davey, C. Mannella, G. Falkous, C. Feeney, AM Schaefer, R. McFarland, GS Gorman, RW Taylor, DM Turnbull, M. Picard: The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. In: Scientific Reports . Volume 6, 08 2016, p. 30610, doi: 10.1038 / srep30610 , PMID 27506553 , PMC 4978969 (free full text) (review).
SY Chow, KL Woon: General anesthesia for adults with mitochondrial myopathy. In: A & A case reports. Volume 4, Number 5, March 2015, pp. 52-57, doi: 10.1213 / XAA.0000000000000119 , PMID 25730410 (Review).

Individual evidence

↑ Mitochondrial myopathy. In: Orphanet (Rare Disease Database).
↑ Adenosine monophosphate deaminase deficiency. In: Orphanet (Rare Disease Database).
↑ Defect of the mitochondrial trifunctional protein. In: Orphanet (Rare Disease Database).
↑ Isolated respiratory chain defect in complex I. In: Orphanet (database for rare diseases).
↑ Congenital cataract-progressive hypotension-hearing loss-developmental delay syndrome. In: Orphanet (Rare Disease Database).
↑ Mitochondrial DNA Deletion Syndrome with Progressive Myopathy. In: Orphanet (Rare Disease Database).
↑ Mitochondrial myopathy - lactic acidosis - hearing loss. In: Orphanet (Rare Disease Database).
↑ Mitochondrial myopathy-cerebellar ataxia-pigment retinopathy syndrome. In: Orphanet (Rare Disease Database).
↑ Mitochondrial DNA Depletion Syndrome, myopathic form. In: Orphanet (Rare Disease Database).
↑ Multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency in adults. In: Orphanet (Rare Disease Database).
↑ Neuropathy, sensory-atactic - dysarthria - ophthalmoplegia. In: Orphanet (Rare Disease Database).
^ Ophthalmoplegia, chronic external progressive, maternally inherited. In: Orphanet (Rare Disease Database).
↑ Ophthalmoplegia, chronic external progressive, with mitochondrial myopathy, adult form. In: Orphanet (Rare Disease Database).
↑ Progressive external ophthalmoplegia-myopathy-cachexia syndrome. In: Orphanet (Rare Disease Database).
↑ Succinate coenzyme Q reductase deficiency, more isolated. In: Orphanet (Rare Disease Database).
^ O. Paciello, P. Maiolino, G. Fatone, S. Papparella: Mitochondrial myopathy in a German shepherd dog. In: Veterinary pathology. Volume 40, Number 5, September 2003, pp. 507-511, doi: 10.1354 / vp.40-5-507 , PMID 12949407 .

Web links

[Orpha-1] Mitochondrial myopathy. In: Orphanet (Rare Disease Database).

[2] Adenosine monophosphate deaminase deficiency. In: Orphanet (Rare Disease Database).

[3] Defect of the mitochondrial trifunctional protein. In: Orphanet (Rare Disease Database).

[4] Isolated respiratory chain defect in complex I. In: Orphanet (database for rare diseases).

[5] Congenital cataract-progressive hypotension-hearing loss-developmental delay syndrome. In: Orphanet (Rare Disease Database).

[6] Mitochondrial DNA Deletion Syndrome with Progressive Myopathy. In: Orphanet (Rare Disease Database).

[7] Mitochondrial myopathy - lactic acidosis - hearing loss. In: Orphanet (Rare Disease Database).

[8] Mitochondrial myopathy-cerebellar ataxia-pigment retinopathy syndrome. In: Orphanet (Rare Disease Database).

[9] Mitochondrial DNA Depletion Syndrome, myopathic form. In: Orphanet (Rare Disease Database).

[10] Multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency in adults. In: Orphanet (Rare Disease Database).

[11] Neuropathy, sensory-atactic - dysarthria - ophthalmoplegia. In: Orphanet (Rare Disease Database).

[12] Ophthalmoplegia, chronic external progressive, maternally inherited. In: Orphanet (Rare Disease Database).

[13] Ophthalmoplegia, chronic external progressive, with mitochondrial myopathy, adult form. In: Orphanet (Rare Disease Database).

[14] Progressive external ophthalmoplegia-myopathy-cachexia syndrome. In: Orphanet (Rare Disease Database).

[15] Succinate coenzyme Q reductase deficiency, more isolated. In: Orphanet (Rare Disease Database).

[16] O. Paciello, P. Maiolino, G. Fatone, S. Papparella: Mitochondrial myopathy in a German shepherd dog. In: Veterinary pathology. Volume 40, Number 5, September 2003, pp. 507-511, doi: 10.1354 / vp.40-5-507 , PMID 12949407 .