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Becker Muscular Dystrophy (BMD)
Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis
Prevalence
2-3/100,000
Age of Onset
ICD-10
G71.0
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males. The age of onset and rate of progression can vary. Muscle weakness usually becomes apparent between the ages of 5 and 15. In some cases, cardiomyopathy is the first sign. BMD is generally milder than DMD and the onset of symptoms usually occurs later.
5 Facts you should know
FACT
Primary signs of BMD are progressive weakness and wasting of the skeletal and cardiac muscles
FACT
It primarily affects males
FACT
Muscle weakness usually becomes apparent between the ages of 5 and 15
FACT
In some cases, cardiomyopathy is the first sign
FACT
Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, but has a milder course
Interest over time
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Common signs & symptoms
Abnormal urinary color
Difficulty climbing stairs
Difficulty walking
Exercise intolerance
Decreased ability to exercise
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Increased CPK
Myalgia
Muscle ache
Myoglobinuria
Elevated hepatic transaminase
High liver enzymes
Current treatments
Management includes multidisciplinary care with physiotherapy to reduce joint contractures and prolong walking. Night time ankle-foot orthoses are prescribed for children to reduce tendo- achilles contractures. Cardiac surveillance and monitoring of respiratory function are very important to improve outcome. Early treatment of cardiomyopathy with ACE (angiotensin-converting enzyme) inhibitors and or beta-blockers is recommended, and referral for cardiac transplantation is appropriate for severely affected patients. Patients with respiratory insufficiency should have pneumococcal and flu vaccines. Respiratory insufficiency should be treated with nocturnal BiPAP (bilevel positive airway pressure) and cough augmentation.
Source: [orpha.net]
Top Clinical Trials
Title | Description | Phases | Status | Interventions | More Information |
---|---|---|---|---|---|
A Study of EDG-5506 in Adult Males With Becker Muscular Dystrophy (ARCH) | The ARCH study is an open-label, single-center, Phase 1b study of EDG-5506 to assess the safety and pharmacokinetics (PK) of EDG-5506 in adults with Becker muscular dystrophy (BMD). EDG-5506 is an investigational product intended to protect and improve function of dystrophic muscle fibers. | Phase 1 | Recruiting | Drug: EDG-5506 | More Info |
A Study to Assess Safety, Tolerability, and PK of EDG-5506 in Healthy Volunteers and Becker Muscular Dystrophy Adult | This Phase 1 study of EDG-5506 will assess the safety, tolerability, and pharmacokinetics (PK) and of EDG-5506 in adult healthy volunteers and in adults with Becker muscular dystrophy (BMD). | Phase 1 | Active, not recruiting | Drug: EDG-5506 Drug: Placebo | More Info |
Safety and Biomarker Response to (+)-Epicatechin in Becker Muscular Dystroph | The safety and tolerability of three escalating doses of (+)-epicatechin will be assessed and early effectiveness measured by changes in plasma biomarkers, tissue biomarkers from muscle biopsies, cardiac imaging, and on clinical function assessments of participants' muscle strength. | Phase 1 | Active, not recruiting | Drug: (+)-Epicatechin | More Info |
Top Treatments in Research
Agent | Class/Mechanism of Action | Development Status | Company | Clinical Studies | More Information |
---|---|---|---|---|---|
EDG-5506 | EDG-5506 is a small orally available molecule that targets the underlying cause of muscle dystrophy by halting the use-driven muscle fiber damage and scar tissue buildup that lead to muscle weakness and wasting | Phase 1 | Edgewise Therapeutics | More Info | More Info |
(+)-Epicatechin | Epicatechin[i] is a naturally-occurring substance (technically, a “monomeric flavanol”) found in a variety of common foods, including certain fruits, green and white tea, and, especially, cocoa. | Phase 1 | Epirium Bio | More Info | More Info |