What is Muscular Dystrophy?
Muscular Dystrophy is the name given to a group of more than 70 neuromuscular disorders, resulting in progressive wasting and weakness of the muscle.
Who does it affect?
Men, women and children of all ages and races can be affected by Muscular Dystrophy. In South Africa the overall incidence of these disorders is approximately one in 1200.
What causes Muscular Dystrophy?
These disorders are usually inherited. The defective gene, responsible for the weakening of the muscles can be passed on from one generation to the next. It can, however, also occur in families where there is no prior history of the condition.
What are the symptoms?
Progressive muscle weakness and fatigue are the more common symptoms. This, in turn, results in limited physical activities. In the more severe cases there is a shortened life expectancy. Symptoms may appear at birth, in early childhood, or develop later in life.
What treatment is available?
There is no cure...yet. Physiotherapy is very important. Exercise programmes and orthopaedic devices can alleviate some of the discomfort experienced. In some cases medication and surgery may help.
Types of Muscular Dystrophy?
- Duchenne Muscular Dystrophy (DMD) MDSA Fact Sheet
(Also known as Pseudohypertrophic)
- Becker Muscular Dystrophy (BMD) MDSA Fact sheet
- Emery-Dreifuss Muscular Dystrophy (EDMD)
- Limb-Girdle Muscular Dystrophy (LGMD)
- Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)
(Also known as Landouzy-Dejerine)
- Myotonic Dystrophy (DM)
(Also known as Steinert's Disease)
- Oculopharyngeal Muscular Dystrophy (OPMD)
- Distal Muscular Dystrophy (DD)
- Congenital Muscular Dystrophy (CMD)
Motor Neuron Disease:
- Amyotrophic Lateral Sclerosis (ALS)
(Also known as Lou Gehrig's Disease)
- Infantile Progressive Spinal Muscular Atrophy (SMA, SMA1 or WH)
(Also known as SMA Type 1, Werdnig-Hoffman)
- Intermediate Spinal Muscular Atrophy (SMA or SMA2)
(Also known as SMA Type 2)
- Juvenile Spinal Muscular Atrophy (SMA, SMA3 or KW)
(Also known as SMA Type 3, Kugelberg-Welander)
- Spinal Bulbar Muscular Atrophy (SBMA)
(Also known as Kennedy's Disease and X-Linked SBMA)
- Adult Spinal Muscular Atrophy (SMA)
Disease of the Neuromuscular Junction:
Myopathies due to Endocrine:
Disease of Peripheral Nerve:
- Charcot-Marie-Tooth Disease (CMT) MDSA Fact Sheet
(Also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy (PMA))
- Friedreich's Ataxia (FA)
- Dejerine-Sottas Disease (DS)
(Also known as CMT Type 3 or Progressive Hypertrophic Interstitial Neuropathy)
- Myotonia Congenita (MC)
(Two forms: Thomsen's and Becker's Disease)
- Paramyotonia Congenita (PC)
- Central Core Disease (CCD)
- Nemaline Myopathy (NM)
- Myotubular Myopathy (MTM or MM)
- Periodic Paralysis (PP)
(Two forms: Hypokalemic and Hyperkalemic)
Metabolic Disease of the Muscle:
- Phosphorylase Deficiency (MPD or PYGM)
(Also known as McArdle's Disease)
- Acid Maltase Deficiency (AMD)
(Also known as Pompe's Disease)
- Phosphofructokinase Deficiency (PFKM)
(Also known as Tarui's Disease)
- Debrancher Enzyme Deficiency (DBD)
(Also known as Cori's or Forbes' Disease)
- Mitochondrial Myopathy (MITO)
- Carnitine Deficiency (CD)
- Carnitine Palmityl Transferase Deficiency (CPT)
- Phosphoglycerate Kinase Deficiency (PGK)
- Phosphoglycerate Mutase Deficiency (PGAM or PGAMM)
- Lactate Dehydrogenase Deficiency (LDHA)
- Myoadenylate Deaminase Deficiency (MAD)
Com a colaboração: Muscular Dystrophy Foundation of South Africa - South Africa