Neuromuscular Conditions

The term “neuromuscular condition” encompasses many genetic or acquired conditions/diseases that impair the functioning of the muscles and/or their direct nervous system control.  These conditions primarily result in muscle wastage and living with the progressive decline in strength is a constant challenge for our members and their loved ones.  The conditions we cover are incurable and there are limited treatments available.

Symptoms include muscle weakness, pain and fatigue, and sometimes rigidity, loss of muscular control and myoclonus (twitching or spasming). The impact of these symptoms means that things like lifting the kettle to make a cup of tea, carrying shopping bags, walking and driving become increasingly hard.  Over time, serious complications in the areas of speaking, swallowing, breathing and heart function may be experienced. 

The age that symptoms appear varies for each condition. For some, symptoms are noticed in infancy, for others not until much later in life.  The outcomes of living with a neuromuscular can include less choice in the areas of education and career opportunities, as well as less time overall in the workforce.  As symptoms progress independence is lost and in some instances, life expectancy is shortened.  

The Muscular Dystrophy Association covers around 60 neuromuscular conditions and can provide you with information and support.  To find out more about a condition, select from the list below or refer to the A-Z menu.

Muscular Dystrophies

  • Becker Muscular Dystrophy

  • Congential Muscular Dystrophy
    including Ullrich, Bethlem and Fukuyama, Muscle-Eye-Brain and Walker Warberg Syndrome

  • Distal Muscular Dystrophy

  • Duchenne Muscular Dystrophy

  • Emery-Dreifuss Muscular Dystrophy

  • Facioscapulohumeral Muscular Dystrophy

  • Limb-Girdle Muscular Dystrophy

  • Manifesting carrier of Becker or Duchenne Muscular Dystrophy

  • Myotonic Dystrophy Types 1 and 2

  • Occulopharyngeal Muscular Dystrophy

Diseases of the Motor Neurons

  • Spinal Muscular Atrophy (SMA) - all types including:
  • Type 1 Infantile Progressive SMA/Werdnig Hoffmann Disease
  • Type 2 Intermediate SMA
  • Type 3 Juvenile SMA/Kugelberg-Welander syndrome
  • Type 4 Adult SMA
  • Spinal Bulbar Muscular Atrophy (SBMA) / Kennedy's Disease and X-linked SBMA 
  • Spinal Muscular Atrophy with Respiratory Distress (SMARD1) / Distal SMA Type 1 (DSMA1) / Distal Hereditary Motor Neuropathy

Diseases of the Peripheral Nerve

  • Charcot-Marie-Tooth Disease (CMT) (Hereditary Motor and Sensory Neuropathy)
  • Dejerine-Sottas Disease (CMT Type 3)
  • Hereditary Sensory Neuropathy 

Inflammatory Myopathies

  • Dermatomyositis
  • Juvenile Dermatomyositis
  • Polymyositis
  • Inclusion Body Myositis 

Diseases of the Neuromuscular Junction

  • Myasthenia Gravis
  • Lambert-Eaton Syndrome
  • Congential Myasthenic Syndrome 

Inherited Ataxias

  • Friedreich Ataxia (FA)
  • Spinocerebellar Ataxia (SCA) - all types

Myopathies - ALL TYPES which includes: 

  • Andersen-Tawil Syndrome 
  • Central Core Disease
  • GNE Myopathy/Hereditary Inclusion Boby Myopathy/Distal Myopathy
  • Hyperthyroid Myopathy
  • Hypothyriod Myopathy
  • Myofibrillar Myopathy
  • Myotonia Congenita (Thomsen's and Becker's Disease)  
  • Myotubular Myopathy
  • Nemaline Myopathy   
  • Paramyotonia Congenita
  • Periodic Paralysis Types 1 and 2   
  • PROMM (Proximal Myotonic Myopathy)/ Myotonic Dystrophy Type 2

Metabolic Diseases of the Muscle - ALL TYPES which includes:

  • McArdle's Disease (Phosphorylase Deficiency) 

  • Pompe Disease (Acid Maltase Deficiency)

  • Tarui's DIsease (Phosphofructokinase Deficiency)

  • Cori or Forbe's Disease (Debrancher Enzyme Deficiency)

  • Mitochondrial Myopathy (including MELAS, MERRF, NARP and MIDD)

  • Carnitine Deficiency

  • Caritine Palmityl Transferase Deficiency

  • Phosphoglycerate Kinase Deficiency

  • Phosphoglycerate Mutase Deficiency

  • Lactate Dehydrongenase Deficiency

  • Myoadenylate Deaminase Deficiency 

Hereditary Spastic Paraplegias - ALL TYPES

Also called Familial Spastic Paraparesis

    Neurocutaneous Syndromes

    • Central Cavernous Hemangioma
    • Neurofibromatosis Type 1 and 2

    • Schwannomatosis

    • Tuberous Sclerosis

    • Von Hippel Lindau Syndrome 

    Leucodystrophies - ALL TYPES

    • Adrenoleucodystrophy

    • Adrenomyeloneuropathy

    • Metachromatic Leucodystrophy

    Last reviewed 21 APRIL 2016

    If you cannot find what you are looking for, please email us on [email protected] and we will be happy to help.