Boston Othotics and Prosthetics

Overview of Neuromuscular Conditions in Children

Neuromuscular disorder is a general term that encompasses many different conditions that affect the function of the skeletal muscles. These diseases can have a number of different causes, symptoms and treatments.

Muscular Dystrophy

There are several different types of muscular dystrophy, with varied causes, symptoms and ages of onset.

Congenital Muscular Dystrophy (CMD)

  • Cause: Genetic disorder
  • Age of onset: Infancy or childhood
  • Symptoms: Muscle weakness, seeming "floppy"
  • Occurrence: One in 125,000 people

Duchenne Muscular Dystrophy (DMD)

  • Cause: Genetic disorder
  • Age of onset: Early childhood
  • Symptoms: Delayed independent walking in children under 2, older children may have difficulty climbing stairs or getting up from a seated position, enlargement of the calf muscles, learning disabilities
  • Occurrence: One in 3,500-5,600 live male births

Becker Muscular Dystrophy (BMD)

  • Cause: Inherited
  • Age of onset: Infancy or childhood
  • Symptoms: Muscle weakness, seeming "floppy"
  • Occurrence: One in 18,450 baby boys

Facioscapulohumeral Muscular Dystrophy (FSHD)

  • Cause: Missing piece of genetic material
  • Age of onset: Late adolescence
  • Symptoms: Muscle weakness and wasting in the face, shoulders, upper arms
  • Occurrence: About one in 20,000 people  

Limb Girdle Muscular Dystrophy (LGMD)

  • Cause: Genetic disorder
  • Age of onset: Varies from early childhood to adulthood
  • Symptoms: Muscle weakness and wasting in the limbs
  • Occurrence: 1 in 14,500-123,000 depending on the type

Myotonic Muscular Dystrophy (DM)

  • Cause: Genetic disorder
  • Age of onset: Varies from early childhood to adulthood
  • Symptoms: Difficulty releasing one's grip, weakness of muscles in the hands and feet, difficulty swallowing, abnormal heart rhythm
  • Occurrence: 1 in 8,000 people  

Dystrophinopathies

Dystrophinopathies are muscle diseases causes by a gene mutation. Mild forms exhibit some muscle cramping, more sever forms can escalate to affect the skeletal and cardiac muscles and result in a diagnosis of BMD or DMD.

Spinal Muscular Atrophy (SMA)

SMA is a neuromuscular disease that affects one in 6,000-10,000 people and is characterized by progressive muscle atrophy, wasting and weakness. There are four types of SMA that affect infants under 1 year old:

  • Type I (Werdnig-Hoffman disease): A severe form of the disorder that manifests at birth or shortly thereafter
  • Type II: Characterized by muscle weakness that develops in children aged 6 months to 1 year
  • An X-linked form in which children typically are born with joint contractures that make movement difficult
  • Distal spinal muscular atrophy Type 1: A form that causes progressive muscle weakness in the hands and feet that eventually spreads to the limbs. 

Other Neuromuscular Disorders

  • Congenital myasthenia gravis syndrome 
  • Myasthenia gravis
  • Lambert-Eaton syndrome
  • Brachial plexopathy - also known as Parsonage Turner syndrome
  • Charcot Marie Tooth (CMT) and other hereditary neuropathies
  • Chronic inflammatory demyelinating polyneuropathy (CIDP) 
  • Guillain-Barre syndrome
  • Friedreich’s ataxia
  • Vasculitis 
  • Amyotrophic lateral sclerosis (ALS) – also known as Lou Gehrig’s disease
  • Spinal bulbar muscular atrophy (SBMA) – also known as Kennedy’s disease and X-linked SBMA

For more information on these and other neuromuscular conditions, see our Resources for Patients and Parents page.