Neuromuscular Conditions Info Pages - Muscular Dystrophy Queensland

Neuromuscular Conditions Info Pages

Neuromuscular Conditions Info Pages

We’ve developed information for the most common neuromuscular conditions with useful links for more detailed information and, where available, condition specific support groups.

Muscle Fibres Muscular Dystrophy

Becker muscular dystrophy (BMD)

Becker muscular dystrophy is a neuromuscular condition that causes progressive weakness of the skeletal muscles and commonly affects the heart muscle, making cardiac problems a characteristic.

Becker Muscular Dystrophy Diagram

Charcot-Marie-Tooth Disease (CMT)

In CMT, the peripheral nerves degenerate and can no longer stimulate muscle function, resulting in progressive muscle weakness, most commonly in the hands, feet, legs and arms.

Charcot-Marie-Tooth Disease

Congenital muscular dystrophy (CMD)

Congenital muscular dystrophy (CMD) is a term for a group of muscular dystrophies present at birth or that appear early during infancy.

A baby born with congenital muscular dystrophy is weak at birth and may have breathing and swallowing problems. In recent times, better supportive care has extended lives.

Congenital muscular dystrophy

Congenital myopathies (CM)

There are five types of congenital myopathies

  • Central core myopathy
  • Centronuclear myopathy
  • Myotubular myopathy
  • Congenital fibre-type disproportion myopathy
  • Multi mini-core myopathy
  • Nemaline myopathy (NM) also known as Congenital Rod Disease or Nemaline Rod Myopathy

Congenital muscular dystrophy

Distal muscular dystrophy or distal myopathy (DD)

First described in 1902, distal muscular dystrophy is a class of muscular dystrophies that primarily affect distal muscles. The distal muscles are those furthest away from the centre of the body, including the lower arms, hands, lower legs and feet.

Distal muscular dystrophy

Duchenne muscular dystrophy (DMD)

DMD (Duchenne muscular dystrophy) is the most common form of muscular dystrophy.

Parents tend to notice signs of muscle problems including delayed motor development, and difficulty keeping up with other children in the playground. Children with DMD may have a waddling gait or walk on their toes, and they develop a distinct way of getting up from the ground (Gower’s manoeuvre).

Becker and Duchenne Muscular Dystrophy Diagram

Emery-Dreifuss muscular dystrophy (EDMD)

Emery-Dreifuss muscular dystrophy is a genetic, degenerative disease primarily affecting the muscles used for movement. Cardiac function is also commonly affected.

Symptoms often first appear in early childhood and include joint contractures which restrict movement of the neck, ankles and/or elbows. By adulthood, people with EDMD also experience problems with heart function.

Emery-Dreifuss muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSH or FSHD)

FSH symptoms include progressive weakness of facial, shoulder, and upper arm muscles. The degree to which each of these areas are affected differs from person to person. It is also very common for the muscles that lift the foot when walking to be affected, resulting in foot drop.

Facioscapulohumeral muscular dystrophy

Friedreich’s ataxia (FA)

Ataxia describes uncoordinated, abnormal movements. In Friedreich’s ataxia people experience difficulty with coordination and movement. Slurred speech is also a common symptom. 

FA is a disorder of the peripheral nervous system and is caused by a fault in the gene responsible for producing a protein called frataxin. It is equally likely to be inherited by girls and boys. Progression in the condition varies from person to person.  


Friedreich's ataxia

Idiopathic inflammatory myopathies (IIM) also known as inflammatory myopathies

Idiopathic inflammatory myopathies is the name given to a non-hereditary group of conditions caused by inflammation in the muscles or associated tissue.

There are two types of idiopathic inflammatory myopathies; dermatomyositis and polymyositis.

Idiopathic inflammatory myopathies

Inclusion body myositis (IBM)

One of the most common disabling inflammatory myopathies in those over the age of 50 is inclusion body myositis (IBM).

Inflammatory myopathy is also known as myositis. The word “myo” represents muscle, and the “itis” root represents inflammation; thus, myositis is an inflammatory disease of the muscles.

Inclusion body myositis

Limb-girdle muscular dystrophy (LGMD)

The term limb-girdle muscular dystrophy (LGMD) refers to a group of over 20 muscular dystrophies. LGMD affects the pelvic (hip) and shoulder areas.

LGMD is characterised by weakness and wasting of muscles of the shoulder and hips initially which may extend to the lower limbs over time. Sore muscles and joint pain may also be present. Progression varies between individuals, even between siblings.

Limb-girdle muscular dystrophy

Myotonic dystrophy (DM) and congenital myotonic dystrophy (CDM)

Myotonic dystrophy (DM), also known as Steinert’s disease, is the most common form of adult muscular dystrophy.

A key attribute of DM is myotonia, difficulty relaxing a tightened muscle after use.


Spinal-bulbar muscular atrophy (SBMA) also known as Kennedy disease

Spinal-bulbar muscular atrophy (SBMA) is caused by the loss of motor neurones (the nerve cells in the spinal cord and brainstem) that control the voluntary movement of muscles.

The name bulbar refers to a bulblike structure in the lower part of the brain that contains nerve cells responsible for controlling muscles in the face, mouth, and throat.

Spinal-bulbar muscular atrophy

Spinal muscular atrophy (SMA)

Spinal muscular atrophy is a genetic neuromuscular condition affecting the central nervous system, peripheral nervous system, and voluntary (or skeletal) muscle movement.

The condition is usually diagnosed in infancy. With treatment, children with SMA are able to develop into adulthood.

Spinal muscular atrophy