Becker Muscular Dystrophy

Updated: Aug 08, 2017 

 Author: Benjamin R Mandac, MD; Chief Editor: Stephen Kishner, MD, MHA  more...

Practice Essentials
Becker and Kiener initially described Becker muscular dystrophy (BMD) in 1955. [1, 2]BMD is an
inherited disease with a male distribution pattern and a clinical picture similar to that of
Duchenne muscular dystrophy (DMD). BMD is generally milder than DMD, and the onset of
symptoms usually occurs later.
The clinical distinction between the 2 conditions is relatively easy because (1) less severe muscle
weakness is observed in patients with BMD and (2) affected maternal uncles with BMD continue
to be ambulatory after age 15-20 years.
Accuracy of diagnosis has been refined with the recognition of the dystrophin gene defects and
with dystrophin staining of muscle biopsy specimens. [3, 4, 5]
Workup
After a thorough history has been taken and a physical examination has been performed, a
diagnosis of BMD may be confirmed with the following lab study sequence:
 Serum creatine kinase shows moderate to severe elevation (that is, 5-100 times the
normal level)
 Dystrophin gene deletion analysis shows specific exon deletions in about 98% of cases;
test methods include the multiplex polymerase chain reaction assay, southern blot analysis,
and fluorescent in situ hybridization
 Muscle biopsy with dystrophin antibody staining demonstrates the presence of dystrophin
in variable percentages; this may be helpful in the young child with no maternal history
Spinal radiographs may be performed to follow the progression of scoliosis, particularly during
adolescence.
Management
Because no cure exists for BMD, treatment is focused on controlling a patient's symptoms.
Weakness progresses, and emergencies related to cardiac and respiratory symptoms are
hallmarks of advance in the disease process.
The role of physical therapy services is to address the functional needs of the patient as the
disease progresses. Early interventions may focus on stretching tight muscles (which may
initially be the only therapy goal). As the patient's weakness progresses, appropriate equipment
and assistive devices will be required to enable the individual to maintain functional mobility and
independence in daily living activities. Educational objectives include teaching the patient
techniques for energy conservation, joint protection, and the prevention of overuse fatigue.
Activities of daily living skills are addressed, depending on the level of impairments, in
occupational therapy. Dysphagia concerns may be evaluated by a speech therapist. Specific
planning for avocational needs and desires may be coordinated with a recreational therapist.
Progressive scoliosis and contracture formation may require surgical intervention. Spinal fusion
to correct scoliosis may be scheduled based on the progression of spinal deformity and the age of
the patient. Ankle contractures may be corrected with appropriate heel cord release and
lengthening. Muscle transfers, such as with the posterior tibialis muscle, also may be considered
to preserve functional mobility.
See also the following related Medscape Drugs & Diseases articles:
Dystrophinopathies
Muscular Dystrophy
Pathophysiology
Advancements in the diagnosis of genetic conditions have revealed that BMD is a type of
recessive, X-linked dystrophinopathy. Exon deletions exist in the dystrophin gene Xp21 (X-
chromosome, short arm p, region 2, band 1). Affected males in approximately 30% of known
cases of BMD phenotype do not have a demonstrable mutation/deletion. A reading frame or in-
frame mutation hypothesis has been proposed to explain abnormal translation of the dystrophin
gene. Abnormal but functional dystrophin may be produced, in contrast to the pathology in
DMD, in which a frame-shift mutation essentially leads to failure to produce
dystrophin. [6, 7,8, 9] Dystrophin levels in BMD are generally 30-80% of normal, while in DMD, the
levels are less than 5%. [3]
Dilated cardiomyopathy with congestive heart failure presents in males between age 20 and 40
years, but in carrier female carriers it is found later in life. [3, 10] This possibly explains why, in
comparison with females, males suffer a rapid progression to death.
A study by Nicolas et al suggested that clinical variations in patients with BMD are related to
differences in dystrophin mutations, as derived from different in-frame exon deletions. For
example, delayed onset of dilated cardiomyopathy seemed to be related to specific exon
deletions, as did earlier wheelchair dependency. [11]
See also the following related Medscape Drugs & Diseases articles:
Dilated Cardiomyopathy [Cardiology]
Dilated Cardiomyopathy [Emergency Medicine]
Pediatric Dilated Cardiomyopathy [Pediatrics: Cardiac Disease and Critical Care Medicine]
Imaging in Dilated Cardiomyopathy [Radiology]
Epidemiology
Frequency
United States
The incidence and prevalence of BMD are lower than those of DMD. The estimated incidence of
BMD is 1 individual per 30,000 male births, compared with 1 individual per 3500 male births for
DMD. [12] The prevalence of BMD is 17-27 cases per 1 million population.
International
The international incidence is probably similar to that in the United States.
Mortality/Morbidity
A series by Emery and Skinner showed the mean age for symptom onset to be 11 years, with the
age range for onset being 2-21 years. [13] The mean age at which affected patients described in the
studies became nonambulatory was 27 years, with an age range of 12-30 years. Death usually
resulted from respiratory or cardiac failure at a mean age of 42 years, with the age range being
23-63 years. [14]
Ambulatory status and age may differentiate DMD from BMD. In general, an ambulatory patient
who is older than 16 years may be classified as not having the Duchenne phenotype, although
some subjects with BMD stop walking between ages 13-16 years. Atypical clinical presentations
include cramps with exercise, focal myopathy, and isolated cardiomyopathy. Unaffected patients
with no evidence of skeletal muscle disease have been classified as having subclinical BMD. [15]
Sex
BMD is an X-linked disorder. Given the transmission pattern, the disease affects primarily
males. Translocations may allow the possibility of a female presentation of the BMD phenotype.
Age
The onset of symptoms occurs at a mean age of 11 years, with the age range for onset being 2-21
years.

History
A typical developmental history of a patient with BMD may include the following:
 Delayed gross motor milestones (eg, late walking, running, jumping, difficulty with stair
climbing) may be reported.
 Initially, some children who are later diagnosed with BMD may be called clumsy.
 Increasing numbers of falls, toe walking, and difficulty rising from the floor may be later
features.
 Proximal muscle weakness is reported.
 Subclinical cases may manifest later in life; dilated cardiomyopathy can be the first sign
of BMD.
 Elbow contractures may be seen later in life.
Physical
See the list below:
 The Gower sign is not a specific finding for muscular dystrophy, but it does point to
proximal weakness in the hip extensors, leading to the pattern of movement seen when
patients rise from the floor.
 A weakness pattern limited to specific muscle groups may help to differentiate BMD
from other muscular dystrophies (such as limb-girdle and Emery-Dreifuss muscular
dystrophies).
 Progressive, symmetrical muscle weakness and atrophy with pseudohypertrophic calves
may be seen.
 Cases have been described of patients presenting without weakness but with symptoms of
cardiomyopathy or cramps as the only indication of a myopathic process. Isolated
weakness to the quadriceps femoris may be the only symptom noted.
 Fasciculation or sensory modality abnormalities can exclude the diagnosis of a
dystrophinopathy.
 Preservation of neck flexor muscle strength may differentiate BMD from DMD.
Causes
BMD is an X-linked, recessive, inherited disorder. A family history of similarly affected
maternal uncles assists the clinician in confirming a diagnosis of BMD.
 A woman is an obligate heterozygote if she has an affected son and one other affected
relative in the maternal line.
 A woman with more than 1 affected child and no family history in the maternal line may
have a germline mutation or a germline mosaicism.
  An isolated proband without a family history may be explained by a mutation occurring
in the egg at or following conception in which only some cells were affected (mosaicism).
On the other hand, the proband's mother may have inherited the gene mutation if (1) her
mother was a carrier or (2) her mother or father had somatic or germline mosaicism.
 Siblings of the proband are at risk of transmitting the gene defect based on the carrier
status of the mother.
o A carrier mother has a 50% transmission rate for the mutation, per pregnancy;
daughters inheriting the mutation will be carriers, and sons with the mutation will be
affected.
o Mothers with germline and/or somatic mosaicism have a higher risk of
transmitting the mutation.

Diagnostic Considerations
These include the following:
 Duchenne muscular dystrophy
 Distal muscular dystrophy
 Scapulohumeral dystrophy
 Spinal muscular atrophy
 Toxic or metabolic disorders
 Spinal cord tumors
 Inflammatory myopathy

Differential Diagnoses
 Congenital Muscular Dystrophy
 Congenital Myopathies
 Emery-Dreifuss Muscular Dystrophy
 Facioscapulohumeral Dystrophy
 Kugelberg Welander Spinal Muscular Atrophy
 Physical Medicine and Rehabilitation for Limb-Girdle Muscular Dystrophy

Laboratory Studies
After a thorough history has been taken and a physical examination has been performed, a
diagnosis of BMD may be confirmed with the following lab study sequence:
 Serum creatine kinase shows moderate to severe elevation (that is, 5-100 times the
normal level)
 Dystrophin gene deletion analysis shows specific exon deletions in about 98% of cases;
test methods include the multiplex polymerase chain reaction assay, southern blot analysis,
and fluorescent in situ hybridization
 Muscle biopsy with dystrophin antibody staining demonstrates the presence of dystrophin
in variable percentages; this may be helpful in the young child with no maternal history
A study by Zhang et al indicated that serum creatinine levels are significantly higher in patients
with BMD than in those with DMD. The study was conducted using biochemical and genetic
data, as well as Vignos scale scores (used to assess motor function), from 212 boys with
dystrophinopathy. [16]
Laboratory evaluation is generally confirmatory of BMD if the patient possesses a phenotype
that is consistent with muscular dystrophy and has a family history of the Becker form of the
disease. Laboratory and phenotypic expression confirm sporadic cases. A clinical picture of
muscular dystrophy, coupled with a preserved ambulatory status beyond age 16 years, is
consistent with a diagnosis of BMD.
Genetic testing and next-generation sequencing technology may aid in diagnosis.[17, 18]  Other
laboratory studies that may be indicated include the following:
 Liver function screen for aspartate transaminase and alanine transaminase
 Muscle biopsy
 Standard histology
Imaging Studies
Spinal radiographs may be performed to follow the progression of scoliosis, particularly during
adolescence.
Other Tests
See the list below:
 Electromyography may be indicated. [19]
o Expect normal nerve conduction with possible borderline-to-low motor evoked
responses.
o Expect increased insertional activity with myopathic motor unit action potentials
(ie, short duration, low-to-normal amplitude, rapid recruitment, decreased units).
o An electrodiagnostic study will facilitate a distinction between a muscular and a
primary nerve process (eg, anterior horn cell disease, hereditary polyneuropathies).
o Electromyography also may assist in identifying which muscle groups would be
optimal for biopsy.
 An electrocardiogram/echocardiogram may show cardiomyopathy and/or arrhythmia.
Dilated cardiomyopathy manifests after age 20 years; the risk progressively increases with
age.
 Pulmonary function testing may reveal bellows failure caused by progressive weakness.
 Associated restrictive disease may be seen with scoliosis or a poorly compliant chest.
Histologic Findings
Standard muscle biopsy alone does not support a diagnosis of BMD. Histologic changes —
specifically, findings of degenerating muscle fibers, a variation in fiber size, focal necrosis,
regeneration, and a proliferation of connective tissue, as well as fatty replacement of degenerated
muscles — point to a muscular dystrophy.

ehabilitation Program
Physical Therapy
The role of physical therapy services is to address the functional needs of the patient as the
disease progresses. Early interventions may focus on stretching tight muscles (which may
initially be the only therapy goal). As the patient's weakness progresses, appropriate equipment
and assistive devices will be required to enable the individual to maintain functional mobility and
independence in daily living activities. Educational objectives include teaching the patient
techniques for energy conservation, joint protection, and the prevention of overuse fatigue.
Occupational Therapy
Activities of daily living skills are addressed, depending on the level of impairments, in
occupational therapy. Specific adaptations (to aid, for instance, dressing and bathroom skills)
may be provided. Such adaptations range from methods of buttoning and zippering clothes to
grab bars and raised toilet seats in the bathroom. Mobility concerns are addressed, including the
need for devices to assist with mobility, such as a scooter or a fully adapted wheelchair with a
custom seat and back, custom supports, and electric power. [20]
Speech Therapy
Dysphagia concerns may be evaluated by a speech therapist. Progressive weakness toward the
end of the disease process may lead to dysphagia and an increased risk of aspiration pneumonia.
Clinical evaluation may result in the recommendation to avoid specific food textures and liquid
viscosities, as well as to avoid certain positions during feeding. Videofluoroscopic evaluation
may be performed to demonstrate the risk of aspiration.
Recreational Therapy
Specific planning for avocational needs and desires may be coordinated with a recreational
therapist. Resources within the community, such as activity programs with the local parks and
recreation department, may be explored. Educational institutions, from public schools to
community colleges and universities, may have resources that can be utilized. Adaptive physical
education programs and disabled student services are generally available for qualified
individuals. Access and mobility concerns in the community invariably touch upon the
adjustment issues faced by individuals with a progressive disability.
Medical Issues/Complications
Potential complications of BMD include progressive weakness that results in orthopedic
deformity and medical emergencies for cardiac and respiratory symptoms. Swallowing-related
complications, from difficulties with mastication to problems in the pharyngeal phases, may arise
with progressive weakness of the swallow mechanism.
A study by Yamada et al found that when patients with BMD were matched by physical function
status to patients with DMD, both groups had similar swallowing problems. The investigators
reported that BMD patients did not differ from those with DMD with regard to the rate of
aspiration or scores on the penetration-aspiration scale or total videofluorographic dysphagia
scale. [21]
Recurrent aspiration pneumonias from progressive dysphagia may eventually cause mortality in
BMD. The progressive loss of safe swallowing may result in the need for gastrostomy tube
placement. Constipation may be an associated problem, given poor fluid intake and progressive
difficulty with commode transfers. Overuse syndromes may lead to complaints of muscle pain,
prolonged fatigue, and myoglobinuria.
Surgical Intervention
Progressive scoliosis and contracture formation may require surgical intervention. Spinal fusion
to correct scoliosis may be scheduled based on the progression of spinal deformity and the age of
the patient. Ankle contractures may be corrected with appropriate heel cord release and
lengthening. Muscle transfers, such as with the posterior tibialis muscle, also may be considered
to preserve functional mobility.
Consultations
Subspecialty consultations depend on the patient's specific needs as related to the disorder.
Appropriate consultations may include the following:
 Anesthesiologist - Preoperative management and planning for appropriate anesthesia are
key reasons for consultation with an anesthesiologist. The risk of malignant hyperthermia is
significant, given the intrinsic muscle disorder. Appropriate cautions must be taken to
avoid medications that may precipitate malignant hyperthermia. [22, 23] Dantrolene sodium is
probably the best medication to use if malignant hyperthermia arises.
 Cardiologist - Cardiac function requires ongoing follow-up care. Symptomatic patients
with significant cardiomyopathy have undergone transplantation procedures.
 Pulmonologist - The need for management of pulmonary problems associated with
muscle weakness and restrictive disease is a typical indication. [24] Formal pulmonary
function testing may be used for preoperative care, as well as for the determination of need
for ventilatory support.
 Orthopedist - The need for management of scoliosis and joint contractures are major
indications for consultation with an orthopedist. [25] The period around puberty is generally
the time for significant change in scoliosis, especially if the patient's ambulatory status is
limited. Heel cord release is a commonly performed joint contracture procedure.
 Geneticist - Consultation regarding the carrier status of the patient's mother and siblings
is important. Transmission risk to offspring should be discussed. Identifying mosaicism in
the mother or father, as well as determining the risk of transmission, is another topic to
consider in nonheterozygote carrier families or in isolated cases.
Other Treatment
Because no cure exists for BMD, treatment is focused on controlling a patient's symptoms.
Weakness progresses, and emergencies related to cardiac and respiratory symptoms are
hallmarks of advance in the disease process. Possible future treatments for BMD include the
following:
 Gene therapy may eventually lead to effective treatment, given proper identification of
the gene defect and effective administration of the corrective gene to the muscle
targets. [26, 27]
 Myoblast treatment, as well as the use of stem cells, also may be alternative modalities if
proven successful.
 Steroids have been reported to show benefit in patients with DMD, but there are
conflicting reports. No definitive evidence demonstrates that steroids are effective against
BMD.

Medication Summary
No medications are provided to patients for the specific treatment of BMD. Medications are
administered to treat symptoms that are commonly are associated with BMD (such as cardiac
medications for heart disease).

Further Outpatient Care

See the list below:
 Rehabilitation management coordinates the administration of appropriate therapeutic
modalities.
 o The physiatrist initiates and coordinates diagnostic studies, because muscular
dystrophy may not have been diagnosed in these patients prior to the initial visit.
o Routine health care issues include the recommendation of yearly influenza
vaccinations, as well as the administration of pneumococcal vaccine.
o Given the progressive nature of the BMD, anticipatory guidance is ongoing. The
physiatrist provides recommendations for classroom accommodations and activity
during a patient's school years. Work-related concerns during the patient's adult years
of employment are primary issues, with work modification scenarios and the use of
assistive devices being prominent concerns.
 Cardiopulmonary evaluations include pulmonary function and electrocardiographic
testing.
o Pulmonary evaluations are important in tracking the progression of muscular
weakness affecting ventilation.
o A simple clinical test with a spirometer may be employed to measure maximal
expiratory volume during routine clinic visits.
o A pattern of falling maximal expiratory volumes over time may indicates the need
for formal pulmonary function to determine the need for ventilatory support.
o Nighttime ventilatory support with a mask or nasal bilevel positive airway
pressure is commonly used if a rising pCO2 is noted. The results from sleep studies
also may suggest progressive difficulty in nighttime ventilation.
o Cardiovascular health supervision guidelines are available [12]
Deterrence
See the list below:
 Prenatal diagnosis is available for a woman with an at-risk pregnancy who has been
identified as having a family history of muscular dystrophy. Identification of dystrophin
gene exon deletions in a male fetus points to the risk of a child with muscular dystrophy.
Couples may elect to terminate the pregnancy if the fetus is affected.
 Carrier status may be determined in the mother and siblings of a proband.
Complications
See the list below:
 Progressive disability
 Dilated cardiomyopathy
 Respiratory symptoms, with a potential need for ventilatory support
 Joint contractures
 Scoliosis
 Dysphagia
 Functional constipation
Prognosis
See the list below:
 See Mortality/Morbidity.
Patient Education
See the list below:
 Well in advance of the projected necessity, discuss the decision, with the occurrence of
pulmonary failure, to place a tracheostomy tube for positive-pressure ventilation, as well as
for airway and secretion management. Inform the patient, family members, and/or
caregivers of the implications of placing the patient on a ventilator. Early education can
help the patient and his/her family to determine advanced directives.