Facts about Muscular Dystrophy

How common is this type?
In 2007, 349 out of 2.37 million males aged 5-24 years were reported to have DMD or BMD in the United States.¹  This means that about 15 out of every 100,000 males ages 5-24 years were affected that year.

In 2009, 233 out of 1.49 million males were reported to have DMD or BMD in Northern England.²  That is, about 16 out of every 100,000 males were affected that year.

Are males or females more likely to be affected?
Males

When does muscle weakness typically begin?
DMD: Before 5 years 
BMD: Between 7-12 years

Which muscles usually show weakness first?
Upper arms, upper legs

What other parts of the body can be affected?
Brain, throat, heart, diaphragm/chest muscles, stomach, intestines, spine

References:

1. Emery AEH. The muscular dystrophies. The Lancet. 2002 Feb 23 2002;359(9307):687-695. 

2. Bushby KM, Goodship JA, Nicholson LV, Johnson MA, Haggerty ID, Gardner-Medwin D. Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromuscul. Disord. Jan 1993;3(1):57-64.

3. Bushby KM, Appleton R, Anderson LV, Welch JL, Kelly P, Gardner-Medwin D. Deletion status and intellectual impairment in Duchenne muscular dystrophy. Dev. Med. Child Neurol. Mar 1995;37(3):260-269.

4. Centers for Disease C, Prevention. Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years – four states, 2007. MMWR Morb. Mortal. Wkly. Rep. Oct 16 2009;58(40):1119-1122.

5. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. Nov 2009;132(Pt 11):3175-3186.

How common is this type? 
In 2009, 316 out of 2.99 million individuals of all ages were reported to have MMD in Northern England.¹  This means that about 11 out of every 100,000 people were affected that year.

Are males or females more likely to be affected? 
Males and females equally

When does muscle weakness typically begin? 
Between 10-30 years, but ranges from birth to 70 years

Which muscles usually show weakness first? 
Face, neck, arms, hands, hips, lower legs

What other parts of the body can be affected?
Eyes, throat, heart, stomach, intestines, hormone-producing organs, nerves, skin

References:

1. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. Nov 2009;132(Pt 11):3175-3186.

2. Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. J. Neurol. Neurosurg. Psychiatry. Apr 2010;81(4):358-367.

3. Gharehbaghi-Schnell EB, Finsterer J, Korschineck I, Mamoli B, Binder BR. Genotype-phenotype correlation in myotonic dystrophy. Clin. Genet. Jan 1998;53(1):20-26.

4. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC). Neurology. Mar 28 2000;54(6):1218-1221.

5. Harper PS. Myotonic Dystrophy. Vol 37. 3 ed. London: W.B. Saunders; 2001.

6. Moxley RT, Pandya S, Ciafaloni E, Fox DJ, Campbell K. Change in Natural History of Duchenne Muscular Dystrophy With Long-term Corticosteroid Treatment: Implications for Management. J. Child Neurol. September 1, 2010 2010;25(9):1116-1129.

7. Moxley RT MG. The Myotonic Dystrophies. In: Rosenberg RN DS, Paulson HL, Ptacek L, Nestler EJ, ed. The Molecular and Genetic Basis of Neurologic and Psychiatric Disease. Philadelphia, PA: Wolters Kluwer; 2008:532-541.

How common is this type? 
In 2009, 68 out of 2.99 million individuals of all ages were reported to have LGMD in Northern England.¹  This means that about 2 out of every 100,000 people were affected that year.

Are males or females more likely to be affected? 
Males and females equally

When does muscle weakness typically begin? 
Ranges from early childhood to late adulthood

Which muscles usually show weakness first? 
Shoulders, hips

What other parts of the body can be affected?
Heart, diaphragm/chest muscles, spine

References:

1. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. Nov 2009;132(Pt 11):3175-3186.

2. Emery AEH. The muscular dystrophies. The Lancet. 2002 Feb 23 2002;359(9307):687-695.

3. Guglieri M, Straub V, Bushby K, Lochmuller H. Limb-girdle muscular dystrophies. Curr. Opin. Neurol. Oct 2008;21(5):576-584.

4. Mathews KD, Moore SA. Limb-girdle muscular dystrophy. Curr. Neurol. Neurosci. Rep. Jan 2003;3(1):78-85.

How common is this type? 
In 2009, 118 out of 2.99 million individuals of all ages were reported to have FSH in Northern England.5  This means that about 4 out of every 100,000 people were affected that year.

Are males or females more likely to be affected? 
Males and females equally

When does muscle weakness typically begin? 
By 20 years  (average age in the teens)

Which muscles usually show weakness first? 
Face, shoulders, upper arms, lower legs

What other parts of the body can be affected?
Eyes, ears, heart, trunk

References:

1. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. Nov 2009;132(Pt 11):3175-3186.

2. Emery AEH. The muscular dystrophies. The Lancet. 2002 Feb 23 2002;359(9307):687-695.

3. Awerbuch GI, Nigro MA, Wishnow R. Beevor’s sign and facioscapulohumeral dystrophy. Arch. Neurol. Nov 1990;47(11):1208-1209.

4. Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. Jul 2006;34(1):1-15.

How common is this type? 
In 2009, 68 out of 2.99 million individuals of all ages were reported to have CMD in Northern England.¹  This means that about 2 out of every 100,000 people were affected that year.

Are males or females more likely to be affected? 
Males and females equally

When does muscle weakness typically begin? 
At birth or in early infancy

Which muscles usually show weakness first? 
Neck, arms, trunk, legs

What other parts of the body can be affected?
Brain, eyes, throat, heart, diaphragm/chest muscles, nerves, spine

References:

1. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. Nov 2009;132(Pt 11):3175-3186.

2. Reed UC. Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq. Neuropsiquiatr. Mar 2009;67(1):144-168.

3. Wang CH, Dowling JJ, North K, et al. Consensus statement on standard of care for congenital myopathies. J. Child Neurol. Mar 2012;27(3):363-382.

4. Bertini E, D’Amico A, Gualandi F, Petrini S. Congenital muscular dystrophies: a brief review. Semin. Pediatr. Neurol. Dec 2011;18(4):277-288.

How common is this type? 
In 2009, 10 out of 2.99 million individuals of all ages were reported to have DD in Northern England.¹  This means less than 1 out of every 100,000 people were affected that year.

Are males or females more likely to be affected?
Males and females equally

When does muscle weakness typically begin? 
Ranges from late teens to adulthood

Which muscles usually show weakness first? 
Lower arms, hands, lower legs, feet

What other parts of the body can be affected?
Nerves, other muscles, depending on the type of DD

References:

1. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. Nov 2009;132(Pt 11):3175-3186.

2. Emery AEH. The muscular dystrophies. The Lancet. 2002 Feb 23 2002;359(9307):687-695.

3. Udd B. Distal muscular dystrophies. Handbook of clinical neurology. 2011;101:239-262.

4. Nonaka I. Distal myopathies. Curr. Opin. Neurol. Oct 1999;12(5):493-499.

How common is this type? 
In 2009, 4 out of 2.99 million individuals of all ages were reported to have OPMD in Northern England.¹  This means that less than 1 out of every 100,000 people were affected that year.

Are males or females more likely to be affected? 
Males and females equally

When does muscle weakness typically begin? 
After 40 years

Which muscles usually show weakness first? 
Face (mostly around the eyes), neck, upper arms, upper legs

What other parts of the body can be affected?
Throat

References:
1. Emery AEH. The muscular dystrophies. The Lancet. 2002 Feb 23 2002;359(9307):687-695.

2. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. Nov 2009;132(Pt 11):3175-3186.

3. Ruegg S, Lehky Hagen M, Hohl U, et al. Oculopharyngeal muscular dystrophy – an under-diagnosed disorder? Swiss Med. Wkly. Oct 1 2005;135(39-40):574-586.

4. Bouchard JP, Brais B, Brunet D, Gould PV, Rouleau GA. Recent studies on oculopharyngeal muscular dystrophy in Quebec. Neuromuscul. Disord. Oct 1997;7 Suppl 1:S22-29

5. Brais B. Oculopharyngeal muscular dystrophy. Handbook of clinical neurology. 2011;101:181-192

How common is this type? 
In 2009, 4 out of 2.99 million individuals of all ages were reported to have EDMD in Northern England.¹  This means that less than 1 out of every 100,000 people were affected that year.

Are males or females more likely to be affected? 
Males

When does muscle weakness typically begin? 
Between 5-15 years

Which muscles usually show weakness first? 
Upper arms, lower legs

What other parts of the body can be affected?
Heart, spine

References:

1. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. Nov 2009;132(Pt 11):3175-3186.

2. Emery AE. Emery-Dreifuss muscular dystrophy – a 40 year retrospective. Neuromuscul. Disord. Jun 2000;10(4-5):228-232.

3. Miller RG, Layzer RB, Mellenthin MA, Golabi M, Francoz RA, Mall JC. Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. Neurology. Aug 1985;35(8):1230-1233.