Muscular dystrophy

Muscular dystrophies , also progressive muscular dystrophy ( dystrophia musculorum progressiva ), are a group of muscle diseases . These are hereditary diseases that are caused by mutations in the genome , which usually lead to defects or a deficiency in proteins occurring in the muscles. This consequently leads to muscle weakness and muscle wasting. All muscular dystrophies are characterized by progressive degeneration of the musculature, accompanied by remodeling processes. These changes are summarized as dystrophic changes that can be detected with light or electron microscopy. The individual muscular dystrophies differ in terms of the type of inheritance , the main body regions affected, the age of the disease and the course. There is no known causal treatment that can stop the progression of muscle degeneration.

The dystrophia musculorum progressiva was first described by Wilhelm Erb in 1891 .

Classification

Classification according to ICD-10
G71.0	Muscular dystrophy
ICD-10 online (WHO version 2019)

The classification of muscular dystrophies can either be based on the traditional clinical distribution pattern, that is, on the basis of the muscles that are primarily affected, or according to genetic criteria. A uniform classification that has become established in the specialist literature does not yet exist.

Genetic classification of muscular dystrophies

group	Hereditary disease	Inheritance	OMIM	Locate	Gene product
X chromosomally inherited dystrophies	Duchenne muscular dystrophy	X-linked recessive	310200	Xp21	Dystrophin
	Becker-Kiener muscular dystrophy	X-linked recessive	300376	Xp21	Dystrophin
	Emery tripod muscular dystrophy type 1	X-linked recessive	310300	Xq28	Emerin
	Scapuloperoneal muscular dystrophy	X-linked recessive	300696	Xq26.3	Four and a half LIM domain protein 1 (FHL1)
	Reducing body myopathy (RBM)	X-linked recessive	300717 and 300718	Xq26.3	Four and a half LIM domain protein 1 (FHL1)
Girdle dystrophies	LGMD1A	autosomal dominant	159000	5q31	Myotilin
	LGMD1B	autosomal dominant	159001	1q11-21	Laminin A / C
	LGMD1C	autosomal dominant	60781	3p25	Caveolin -3
	LGMD1D	autosomal dominant	602067	6q23	not known
	LGMD1E	autosomal dominant	603511	7q	not known
	LGMD2A	autosomal recessive	253600	15q15.1-21.1	Calpain-3
	LGMD2B	autosomal recessive	253601	2p13	Dysferlin
	LGMD2C	autosomal recessive	253700	13q12	γ-sarcoglycan
	LGMD2D	autosomal recessive	608009	17q12-21.3	α- sarcoglycan (adhalin)
	LGMD2E	autosomal recessive	604286	4q12	β-sarcoglycan
	LGMD2F	autosomal recessive	601287	5q33-34	δ-sarcoglycan
	LGMD2G	autosomal recessive	601954	17q11-12	Telethonin
	LGMD2H	autosomal recessive	254110	9q31-33	E3 ubiquitin ligase (TRIM32)
	LGMD2I	autosomal recessive	607155	19q13	Fukutin-related protein (FKRP)
	LGMD2J	autosomal recessive	608807	2q31	Titin
	LGMD2K	autosomal recessive	609308	9q34.13	POMT1
	LGMD2L	autosomal recessive	611307	11p14.3	Anoctamine-5
	LGMD2M	autosomal recessive	611588	9q31-33	Fukutin
	LGMD2N	autosomal recessive	613158	1p34	POMT2
	LGMD2O	autosomal recessive	613157	1p34.1	POMGNT1
	LGMD2Q	autosomal recessive	613723	8q24.3	Plectine
Congenital muscular dystrophies	Congenital merosin deficiency (merosinopathy, MDC1A)	autosomal recessive	607855	6q22-23	Laminin -α2 (merosin)
	Congenital myopathy with integrin alpha-7 deficiency	autosomal recessive	613204	12q13	Integrin alpha-7
	Congenital Muscular Dystrophy 1C (MDC1C)	autosomal recessive	606612	19q13	Fukutin-related protein (FKRP)
	Fukuyama congenital muscular dystrophy (FCMD)	autosomal recessive	253800	9q31-33	Fukutin
	Walker-Warburg Syndrome	autosomal recessive	236670	9q34.13	POMT1
	Muscle-eye-brain disease (Santavuori type)	autosomal recessive	253280	1p34.1	POMGNT1
	Rigid Spine Syndrome	autosomal recessive	602771	1p36.11	Selenoprotein N1
	Ullrich myopathy	autosomal recessive and autosomal dominant	254090	21q22.3 21q22.3 2q37.3	Collagen alpha-1 Collagen alpha-2 Collagen alpha-3
	Bethlem myopathy	autosomal dominant	158810	21q22.3 21q22.3 2q37.3	Collagen alpha-1 Collagen alpha-2 Collagen alpha-3
Distal muscular dystrophies	Distal muscular dystrophy type Welander	autosomal dominant	604454	2p13	not known
	Distal muscular dystrophy type Udd	autosomal dominant	600334	2q31.2	Titin
	Markesbery-Griggs distal muscular dystrophy	autosomal dominant	609452	10q23.2	ZASP
	Distal muscular dystrophy Nonaka type	autosomal recessive	605820	9p13.3	UDP-N-acetylglucosamine-2-epimerase / N-acetylmannosamine-kinase (GNE)
	Miyoshi muscular dystrophy 1	autosomal recessive	254130	2p13.2	Dysferlin
	Miyoshi muscular dystrophy 2	autosomal recessive	613318	8q22.3	unknown
	Miyoshi muscular dystrophy 3	autosomal recessive	613319	11p14.3	Anoctamine-5
	Distal muscular dystrophy type Laing	autosomal dominant	160500	14q11.2	Myosin-7
	Vocal cord and pharyngeal weakness with distal myopathy (VCPDM)	autosomal dominant	606070	5q31	Matrin-3
Myofibrillary Myopathies	Myofibrillary Myopathy Type 1 (MFM1)	autosomal dominant and autosomal recessive	601419	2q35	Desmin
	Myofibrillary Myopathy Type 2 (MFM2)	autosomal dominant	608810	11q23.1	Alpha-crystallin B
	Myofibrillary Myopathy Type 3 (MFM3)	autosomal dominant	609200	5q31.2	Myotilin
	Myofibrillary Myopathy Type 4 (MFM4)	autosomal dominant	609452	10q23.2	ZASP
	Myofibrillary Myopathy Type 5 (MFM5)	autosomal dominant	609524	7q32.1	Filamin-C
	Myofibrillary Myopathy Type 6 (MFM6)	autosomal dominant	612954	10q26.11	BAG family molecular chaperone regulator 3 (BAG3)
Myotonic dystrophies	Myotonic dystrophy type 1 (Curschmann-Steinert's disease)	autosomal dominant	160900	19q13.32	Myotonin protein kinase (DMPK, Myotonic dystrophy protein kinase)
	Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM)	autosomal dominant	602668	3q21.3	Zinc finger protein 9 (ZNF9)
Other muscular dystrophies	Facioscapulohumeral Muscular Dystrophy (FSHD)	autosomal dominant	606070	4q35	Double homeobox protein 4 (DUX4)
	Scapuloperoneal muscular dystrophy (Stark-Kaeser syndrome)	autosomal dominant	181400	2q35	Desmin
	Emery tripod muscular dystrophy type 4	autosomal dominant	612998	6q25.1-q25.2	Nesprin-1
	Emery tripod muscular dystrophy type 5	autosomal dominant	612999	14q23.2	Nesprin-2

Diagnosis

The determination of creatine kinase (CK) in the blood serum can provide a general indication of the presence of muscular dystrophy, since the serum concentration increases with degeneration of the skeletal muscle fibers. Accordingly, the creatine kinase is slightly to significantly increased in most muscular dystrophies ( hyperCKemia ). The determination of serum creatine kinase is considered to be more sensitive and specific than the determination of other enzymes such as aspartate aminotransferase (ASAT), alanine aminotransferase (ALAT) and lactate dehydrogenase (LDH), which are often also elevated. Since the level of serum creatinine kinase differs significantly between the individual muscular dystrophies, it can also be used for differential diagnostic considerations. In addition, an increase in CK can also be the only symptom of muscular dystrophy. This plays a role, among other things, when examining relatives, since an increase in the CK can then possibly provide information on the mode of inheritance.

See also

• Muscular dystrophy network - interdisciplinary network for research into muscular dystrophies

Web links

• German Society for Muscle Sick People V. (DGM)
• Swiss muscle society

Individual evidence

1. ^ Fritz Broser : Topical and clinical diagnosis of neurological diseases. 2nd Edition. U&S, Munich 1981, ISBN 3-541-06572-9 ; Chapter page 1–180.
2. ^ Karl F. Masuhr : Neurology . Hippokrates-Verlag, Stuttgart 1989, ISBN 3-7773-0840-4 , p. 374.
3. ↑ Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Volume 101). Elsevier Science, 2011, ISBN 978-0-08-045031-5 , pp. 2-3.
4. ^ OMIM , accessed September 1, 2011.
5. ^ Anthony A. Amato, Robert C. Griggs: Overview of the muscular dystrophies. In: Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Volume 101). 3. Edition. Elsevier, 2011, ISBN 978-0-08-045031-5 , p. 4.
6. ↑ Dieter Pongratz, Stephan Zierz: Neuromuscular diseases. Diagnostics, interdisciplinary therapy and self-help. Deutscher Ärzteverlag, 2003, ISBN 3-7691-1172-9 , p. 73.

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 !