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What Are Usually the First Signs of Muscular Dystrophy?

Reviewed on 1/13/2022
Some of the first signs of muscular dystrophy may include delays in sitting, walking, and talking; learning difficulties, walking on toes and/or waddling, walking with legs apart, frequent falls, muscle pain and stiffness, trouble getting up from sitting or lying down, enlarged calf muscles (pseudohypertrophy), and others.
Some of the first signs of muscular dystrophy may include delays in sitting, walking, and talking; learning difficulties, walking on toes and/or waddling, walking with legs apart, frequent falls, muscle pain and stiffness, trouble getting up from sitting or lying down, enlarged calf muscles (pseudohypertrophy), and others.

Muscular dystrophy is a group of disorders that cause muscle weakness and that tend to run in families. 

Signs and symptoms of muscular dystrophy usually start in childhood, but some types can begin in adulthood. Some of the first signs of muscular dystrophy may include: 

  • Developmental delays in early milestones such as sitting, walking, and talking
  • Does not speak as well as other children the same age 
  • Learning difficulties
  • Difficulty lifting the head or a weak neck 
  • Child is not walking by 15 months 
  • Walking on toes and/or waddling
  • Walking with legs apart 
  • Walking with chest pointed out (or has a swayback, saddle back, or arched back)
  • Frequent falls
  • Muscle pain and stiffness
  • Trouble getting up from sitting or lying down
  • Problems running, jumping, and climbing stairs
  • Enlarged calf muscles (pseudohypertrophy)

Signs and symptoms of muscular dystrophy vary depending the type.

Symptoms of Duchenne and Becker muscular dystrophy include: 

  • Weakness that starts in the trunk and spreads to the arms and legs
    • Legs usually weaken first, making it hard to run, jump, or climb stairs
  • Abnormal curves in the spine (scoliosis)
  • Heart and lung problems
  • Mental problems in some children

Symptoms of Emery-Dreifuss muscular dystrophy include:

  • Weakness starts in the arms and later affects the legs
    • Sometimes weakness occurs in the face 
  • Heart problems
  • Limited movement at certain joints caused by tightening of the tissues around the joint (contracture)

Symptoms of myotonic dystrophy include:

Symptoms of limb girdle muscular dystrophy include:

  • Weakness in shoulders and hips
  • Heart problems
  • Joint contracture 

Symptoms of facioscapulohumeral muscular dystrophy (FSHD) include:

  • Weakness face muscles to the point a person is unable to smile, whistle, or shut his or her eyes tight
    • Weakness may affect the legs, shoulders, and upper arms
  • Pain
  • Heart problems
  • Hearing problems
  • Mental problems or seizures in some patients

Symptoms of congenital muscular dystrophy include:

  • Weakness in many muscles (sometimes referred to as floppy baby”)
  • Joint contracture

What Causes Muscular Dystrophy?

Muscular dystrophy is caused by genetic mutations. Usually, a defective gene is passed on from one or both parents to a child. Sometimes, a genetic mutation is not inherited from parents but occurs spontaneously, though this mutation may then be passed along to offspring of the patient. 

How Is Muscular Dystrophy Diagnosed?

Muscular dystrophy is diagnosed with a physical exam and: 

What Is the Treatment for Muscular Dystrophy?

There is no cure for muscular dystrophy. Treatments for muscular dystrophy include: 

  • Medications
    • Glucocorticoids, such as prednisone to reduce inflammation
    • Anticonvulsants to help control seizures and some muscle spasms
    • Immunosuppressants may help delay damage to dying muscle cells
    • Eteplirsen for Duchenne muscular dystrophy
    • Antibiotics to treat respiratory infections
  • Physical therapy
    • Stretching exercises 
    • Physical activity 
  • Respiratory therapy
    • Breathing exercises
    • Assisted ventilation
  • Speech therapy
    • For patients with weakness of facial and throat muscles 
    • Learning to slow the pace of speech and use special communication equipment
  • Occupational therapy 
    • Helps with movements and abilities for everyday tasks 
    • Teaches use of assistive devices such as wheelchairs and utensils
  • Assistive devices
    • Braces
    • Wheelchairs
    • Other devices 
  • Corrective surgery
    • To treat conditions that result from muscular dystrophy

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Reviewed on 1/13/2022
References
Image Source: iStock Images

https://www.uptodate.com/contents/overview-of-muscular-dystrophies-beyond-the-basics?search=Muscular%20Dystrophy&topicRef=15489&source=see_link

https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/treatment

https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy

https://pubmed.ncbi.nlm.nih.gov/32107739/

https://musculardystrophynews.com/life-expectancy/

https://www.rarediseasereview.org/publications/2019/11/1/emery-dreifuss-muscular-dystrophy-a-triad-of-challenges

https://www.mda.org/disease/congenital-muscular-dystrophy

https://musculardystrophynews.com/2017/08/07/7-common-early-symptoms-of-duchenne-muscular-dystrophy/

https://www.parentprojectmd.org/about-duchenne/is-it-duchenne/signs-and-symptoms/