List of neuromuscular conditions

Muscular Dystrophy Queensland provides services for all Queenslanders who have a neuromuscular condition. The following information is not a complete list of all neuromuscular conditions supported by our Association. It is provided as a general information resource.

Neuromuscular conditions can be broken down into six general types. These are muscular dystrophies, motor neuron conditions, metabolic muscle conditions, conditions of the peripheral nerve, conditions of the neuromuscular junction and neuromuscular myopathies.

Muscular Dystrophies

Becker Muscular Dystrophy (BMD)
Congenital Muscular Dystrophy (CMD)
Distal Muscular Dystrophy (DD) (Miyoshi)
Duchenne Muscular Dystrophy (DMD) (Pseudohypertrophic)
Emery-Dreifuss Muscular Dystrophy (EDMD)
Facioscapulohumeral Muscular Dystrophy (FSH) (FSHD) (Landouzy-Dejerine)
Limb-Girdle Muscular Dystrophy (LGMD)
Myotonic Muscular Dystrophy (MMD) (DM) (Steinert Disease)
Oculopharyngeal Muscular Dystrophy (OPDM)

Motor Neuron Conditions

Amyotrophic Lateral Sclerosis (ALS) (Lou Gehrig’s Disease) (MND) (Motor Neurone Disease)
Spinal Bulbar Muscle Atrophy (SBMA) (X-Linked SBMA) (Kennedy Disease)
Spinal Muscle Atrophy Type 1 (SMA1) (Werdnig-Hoffman Disease)
Spinal Muscle Atrophy Type 2 (SMA2)
Spinal Muscle Atrophy Type 3 (SMA3) (Kugelberg-Welander Disease)

Metabolic Muscle Conditions

Acid Maltase Deficiency (AMD) (Pompe Disease)
Phosphorylase Deficiency (Myphosphorylase Deficiency) (McArdle Disease) (MPD) (PYGM)
Phosphofructokinase Deficiency (Tauri Disease)
Debrancher Enzyme Deficiency (DBD) (Cori Disease) (Forbes Disease)
Mytochondrial Myopathies
Carnitine Deficiency (CD)
Carnitine Palmityl Transferase Deficiency (CPT)
Phosphoglycerae Kinase Deficiency
Phosphoglycerate Mutase Deficiency
Lactate Dheydrogenase Deficiency (LDHA)
Myoadenylate Deaminase Deficiency

Conditions of the Peripheral Nerve

Charcot-Marie-Tooth Disease (CMT) (Peroneal Muscular Atrophy) (PMA) (Hereditary Motor and Sensory Meuropathy) (HMSN)
Friedreich’s Ataxia (FA)
Dejerine-Sottas Disease (CMT4F)

Conditions of the Neuromuscular Junction

Myasthenia Gravis (MG)
Lambert-Eaton Myasthenic Syndrome (LES)
Congenital Myasthenic Sydnromes (CMS)

Neuromuscular Myopathies

Myotonia Congenita (MC) (Thomsen’s Disease) (Becker’s Disease)
Paramyotonia Congenita (PC)
Central Core Disease (CCD)
Nemaline Myopathy (NM)
Myotubular Myopathy (MTM)
Centronuclear Myopathy (CNM)
Periodic Paralysis (PP) (Hyperkalemic Periodic Paralysis)
Hyperthyroid Myopathy (MYPTM)
Hypothyroid Myopathy (HPOTM)
Dermatomyositis (DM)
Polymyositis (PM)
Inclusion Body Myositis (IBM)