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New 4/00
GENETICS
Genetics and Neuromuscular Diseases
Introduction
What is a Genetic Disorder?
What is Genetic Testing?
How are Genetic Disorders Inherited?
MDA's Purpose and Programs
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MDA's Purpose and Programs
The Muscular Dystrophy Association fights neuromuscular diseases through an unparalleled worldwide research effort, a nationwide program of medical services, and far-reaching professional and public health education. Individual MDA research grants to investigators in the United States and abroad number some 400. The Association's advisory committees review projects that will increase knowledge in the neuromuscular field and may lead to treatments or cures for muscular dystrophy and related disorders. Through MDA's services program, comprehensive medical services are furnished to children and adults with neuromuscular diseases at some 225 MDA hospital-affiliated clinics and through the Association's chapters. The following diseases are included in MDA's program:
Muscular Dystrophies
Myotonic dystrophy (Steinert's disease)
Duchenne (pseudohypertrophic) muscular dystrophy
Becker muscular dystrophy
Limb-girdle muscular dystrophy
Facioscapulohumeral (Landouzy-Dejerine) muscular dystrophy
Congenital muscular dystrophy
Oculopharyngeal muscular dystrophy
Distal muscular dystrophy
Emery-Dreifuss muscular dystrophy
Motor Neuron Diseases
Amyotrophic lateral sclerosis (ALS)
Infantile progressive spinal muscular atrophy
(Type 1, Werdnig-Hoffman disease)
Intermediate spinal muscular atrophy
(Type 2)
Juvenile spinal muscular atrophy
(Type 3, Kugelberg-Welander disease)
Adult spinal muscular atrophy (Aran-Duchenne type)
Inflammatory Myopathies
Polymyositis
Dermatomyositis
Diseases of Neuromuscular Junction
Myasthenia gravis
Lambert-Eaton (myasthenic) syndrome
Diseases of Peripheral Nerve
Peroneal muscular atrophy
(Charcot-Marie-Tooth disease)
Friedreich's ataxia
Dejerine-Sottas disease
Metabolic Diseases of Muscle
Phosphorylase deficiency
(McArdle's disease)
Acid maltase deficiency
(Pompe's disease)
Phosphofructokinase deficiency
(Tarui's disease)
Debrancher enzyme deficiency
(Cori's or Forbes' disease)
Mitochondrial myopathy
Carnitine deficiency
Carnitine palmityl transferase deficiency
Phosphoglycerate kinase deficiency
Phosphoglycerate mutase deficiency
Lactate dehydrogenase deficiency
Myoadenylate deaminase deficiency
Myopathies Due to Endocrine Abnormalities
Hyperthyroid myopathy
Hypothyroid myopathy
Other Myopathies
Myotonia congenita
Paramyotonia congenita
Central core disease
Nemaline myopathy
Myotubular myopathy
Periodic paralysis
MUSCULAR DYSTROPHY ASSOCIATION
National Headquarters - 3300 E. Sunrise Drive - Tucson, AZ 85718
Jerry Lewis, National Chairman
www.mda.org - (800) 572-1717
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Facts About Genetic Disorders
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Back to Disease Brochures
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