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Common characteristics

Heart

Poor circulation may cause:

  • Fatigue
  • Lethargy
  • Swelling in the legs and feet
  • Cold arms and legs
  • Digestive problems 
Nutrition
  • Muscles used in swallowing and chewing may be weakened causing:
    • Dehydration
    • Malnutrition
    • Inhaling food, which can cause choking or respiratory infections
    • Inhaling liquid into the lungs (aspiration).
  • A feeding tube (gastrostomy tube or g-tube) may be needed.
  • Constipation may be an issue from lack of moving, which in turn may lead to decreased appetite.

Learn more about specific neuromuscular disorders

Charcot Marie Tooth Disease (1 in 3,300)
  • Characterized by weakness and breakdown of muscles and nerves
  • Typically affects from elbows down and the legs from knees down
  • Other complications:
    • Foot deformities
    • Numbness
    • Ankle spasms
    • Muscle cramps
    • Burning nerve pain

Treatment and assists:

  • Leg braces
  • Wrist braces
  • Wheelchair or other assistive devices
Dystrophinopathies - Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD)

This refers to a range of progressive muscle diseases only affecting boys, which is caused by a change in a gene on their X chromosome.  The skeletal muscle is affected and death is usually caused by cardiomyopathy.  The prevalence is 1 in 4,700 live births for DMD.

Duchenne Muscular Dystrophy (DMD)

  • Presents in early childhood with delayed milestones
    • Delays in sitting and standing
    • Proximal muscle weakness causes waddling gait and difficulty climbing
      • Proximal muscles are the ones closest to the center of the body
    • Boys may have trouble walking and be unstable
  • DMD is rapidly progressive with boys typically being wheelchair dependent by age 12
  • Cardiomyopathy (disease of the heart muscle) typically occurs in the late teen years
    • Shortness of breath
    • Fluid retention in the feet and lower legs

Becker Muscular Dystrophy (BMD)

  • BMD has a later onset of muscle weakness
  • Individuals can usually walk into their 20s
  • Some boys will experience activity induced muscle cramping

Treatment (applies to both):

  • Anti congestive medications may help
  • Prednisone may be used to improve strength and motor function.
  • Annual flu and pneumococcal shots
  • Balanced diet rich in vitamin D and calcium to improve bone density and reduce risk of fractures
  • Weight control to avoid obesity
Emery Dreifuss Muscular Dystrophy (EDMD; prevalence unknown)
  • Characterized by weakness and wasting of shoulder, upper arm, and shin muscles
  • May also have
    • Joint deformities
    • Heart complications
Friedreich Ataxia (1-2 in 50,000)
  • Characterized by slow progressive ataxia
  • The onset is 10-15 years of age
  • Cognitive skills
    • Cognition not usually slowed
    • Motor and mental reaction time may be impaired
    • Intelligence profile characterized by
      • Concrete thinking
      • Poor capacity formation
      • Visuospatial reasoning with reduced speed of processing
      • Problems with attention and working memory

Other characteristics findings:

  • Muscle weakness
  • Dysarthria (a motor speech disorder affecting muscles in the mouth and face)
  • Spasticity in lower limbs and/or absent lower limb reflexes
  • Scoliosis
  • Bladder dysfunction
  • Loss of position and vibration senses
  • Sleep apnea
  • Shaky movements
  • Lack of coordination
  • Poor balance
  • Slurred speech
  • Dysphagia (difficulty swallowing)
  • Hearing loss
  • Loss of visual acuity

Treatment:

  • Walking aids
  • Wheelchairs
  • Speech therapy
  • Occupational therapy
  • Physical therapy for strength and balance
  • Orthotic interventions for scoliosis, and/or foot deformities
  • Hearing devices for hearing loss
  • Address vision issues
  • Dietary modifications and/or G tube for dysphagia
  • May need insulin and/or dietary management for diabetes
  • Psychological support counseling
  • Ataxia:
    • Avoid areas that may put individual at risk for falling,
    • Excessive use of alcohol can increase ataxia
Limb Girdle Muscular Dystrophy (LGMD; 1 in 14,500-123,000)
  • There are more than 20 different subtypes, which vary in progression, severity, and age of onset
  • This is a group of disorders affecting voluntary muscles: mainly hips and shoulders
  • Muscle weakness and atrophy lead to limited mobility and an inability to raise arms and shoulders
  • Intellect is not affected
  • Cardio/pulmonary issues may occur later in disease 
Myotonic Dystrophies (1 in 20,000)

Learn more about the different forms of Myotonic Dystrophy.

  • Is a multisystem disorder than affects skeletal and smooth muscles
  • It ranges from mild to severe
  • Most symptoms of myotonic dystrophy begin after 20 years of age
  • This condition causes an inability to relax muscles
    • It typically affects the following:
      • Face
      • Feet
      • Hands
      • Neck
  • The eyes, heart, endocrine, and central nervous system may also be affected
  • Minor intellectual disability is present in some individuals
  • Lack of facial expression may misrepresent intelligence
  • Anti-social behavior may be found
  • Possible behavioral characteristics
    • Avoidant
    • Obsessive compulsive
    • Passive expressive personality
    • Anxiety
    • Depression
  • May have sleep apnea and day time sleepiness

 

Spinal muscular atrophy (SMA; 1 in 10,000)

SMA is a disease that progressively weakens individual’s physical strength by affecting the motor nerve cells in the spinal cord. This affects the ability to walk, eat, and/or breathe. It is the number one genetic cause of death for infants. Cognitive function is not affected.

  • There are four primary types of SMA: type I, II, III, and IV. The type of SMA is based on age of onset and the highest physical milestones achieved. 
  • Those with SMA may also have:
    • Poor weight gain
    • Sleep difficulties
    • Scoliosis
    • Joint contractures
    • GI issues
      • Constipation
      • GI reflux
    • Incontinence
    • Pain

Treatment and other assists:

  • Physical therapy
    • Stretching
    • Range of motion activities
  • Occupational therapy
    • Modified written assignments
    • Computer technology
    • Fine motor strengthening
  • Orthotic interventions for scoliosis, and/or foot deformities
  • Dietary modifications and/or G tube for dysphagia
  • Cough assist, bi-pap and/or other respiratory interventions
  • Ensure safety on playground, in hallways, in the class
  • Adaptive physical education
  • Walking aids, wheelchair, and other assistance in getting around the classroom

For more information on SMA generally and SMA in the classroom visit Cure SMA / At School.