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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

6,620 - 9,930

US Estimated

10,270 - 15,405

Europe Estimated

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

1

Primary signs of BMD are progressive weakness and wasting of the skeletal and cardiac muscles

FACT

2

It primarily affects males

FACT

3

Muscle weakness usually becomes apparent between the ages of 5 and 15

FACT

4

 In some cases, cardiomyopathy is the first sign

FACT

5

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

Becker muscular dystrophy (BMD) is also known as...

Becker muscular dystrophy (BMD) is also known as:

  • Benign pseudohypertrophic muscular dystrophy
  • Becker's muscular dystrophy
  • Muscular dystrophy
  • Becker type

What’s your Rare IQ?

With BMD, which part of the body often becomes enlarged?

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

TitleDescriptionPhasesStatusInterventionsMore 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 1RecruitingDrug: EDG-5506More Info
A Study to Assess Safety, Tolerability, and PK of EDG-5506 in Healthy Volunteers and Becker Muscular Dystrophy AdultThis 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 1Active, not recruitingDrug: EDG-5506
Drug: Placebo
More Info
Safety and Biomarker Response to (+)-Epicatechin in Becker Muscular DystrophThe 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 1Active, not recruitingDrug: (+)-EpicatechinMore Info

Top Treatments in Research

AgentClass/Mechanism of ActionDevelopment StatusCompanyClinical StudiesMore Information
EDG-5506EDG-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 wastingPhase 1Edgewise TherapeuticsMore InfoMore Info
(+)-EpicatechinEpicatechin[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 1Epirium BioMore InfoMore Info