3 peripheral nerve disorders in MDA Program

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You will find there are 3 peripheral nerve disorders listed in the

MDA program: CMT, Frederich's Ataxia and DSS (which is now

genetically considered a variant of CMT 1. Also, be aware that

because if the phrenic nerve is affected in CMT, one could consider

CMT " life threatening " . ~ G

Neuromuscular Diseases in the MDA Program

http://www.mdausa.org/disease/index.html

The pages in this section will introduce you to the diseases in MDA's

program. Follow any of the links below to find the characteristics of

a disease; the usual age of onset, progression and inheritance type;

a comprehensive list of materials on this Web site about the disease.

There is also a master list of the diseases containing brief

descriptions.

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MUSCULAR DYSTROPHIES:

Duchenne Muscular Dystrophy (DMD)

(Also known as Pseudohypertrophic)

Becker Muscular Dystrophy (BMD)

Emery-Dreifuss Muscular Dystrophy (EDMD)

Limb-Girdle Muscular Dystrophy (LGMD)

Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)

(Also known as Landouzy-Dejerine)

Myotonic Dystrophy (MMD)

(Also known as Steinert's Disease)

Oculopharyngeal Muscular Dystrophy (OPMD)

Distal Muscular Dystrophy (DD) (Miyoshi)

Congenital Muscular Dystrophy (CMD)

MOTOR NEURON DISEASES:

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 - Adult)

INFLAMMATORY MYOPATHIES:

Dermatomyositis (DM)

Polymyositis (PM)

Inclusion Body Myositis (IBM)

DISEASES OF THE NEUROMUSCULAR JUNCTION:

Myasthenia Gravis (MG)

Lambert-Eaton Syndrome (LES)

Congenital Myasthenic Syndrome (CMS)

MYOPATHIES DUE TO ENDOCRINE ABNORMALITIES:

Hyperthyroid Myopathy (HYPTM)

Hypothyroid Myopathy (HYPOTM)

DISEASES OF PERIPHERAL NERVE:

Charcot-Marie-Tooth Disease (CMT)

(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)

OTHER MYOPATHIES:

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 DISEASES OF 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)