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Le malattie neuromuscolari nel programma della MDA

Le pagine in questa sezione ti introdurranno alle malattie nel programma della MDA. Segui i collegamenti quì sotto per trovare

le caratteristiche di una malattia;
l'età di insorgenza usuale, la progressine ed il tipo di ereditarietà;
un elenco completo dei materiali sulla malattia presenti nel sito.

C'è anche un elenco generale delle malattie contenente descrizioni sintetiche.

MALATTIE METABOLICHE DEL MUSCOLO:

Miopatia mitocondriale (MITO)

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)

Carnitina Deficiency (CD)

Carnitina Palmityl Transferase Deficiency (CPT)

Phosphoglycerate Kinase Deficiency (PGK)

Phosphoglycerate Mutase Deficiency (PGAM or PGAMM)

Lactate Dehydrogenase Deficiency (LDHA)

Myoadenylate Deaminase Deficiency (MAD)

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 MALATTIE:

Amyotrophic Lateral Sclerosis (ALS)
(Also known as Lou Gehrig's Disease)

Infantile Progressive Spinal Muscular Atrofia (SMA, SMA1 or WH)
(Also known as SMA Type 1, Werdnig-Hoffman)

Intermediate Spinal Muscular Atrofia (SMA or SMA2)
(Also known as SMA Type 2)

Juvenile Spinal Muscular Atrofia (SMA, SMA3 or KW)
(Also known as SMA Type 3, Kugelberg-Welander)

Spinal Bulbar Muscular Atrofia (SBMA)
(Also known as Kennedy's Disease and X-Linked SBMA)

Adult Spinal Muscular Atrofia (SMA - Adult)

INFLAMMATORY MYOPATHIES:

Dermatomyositis (DM)

Polymyositis (PM)

Inclusion Body Myositis (IBM)

MALATTIE OF THE NEUROMUSCULAR JUNCTION:

Miastenia grave (MG)

Lambert-Eaton Syndrome (LES)

Congenital Myasthenic Syndrome (CMS)

MYOPATHIES DUE TO ENDOCRINE ABNORMALITIES:

Hyperthyroid Myopathy (HYPTM)

Hypothyroid Myopathy (HYPOTM)

MALATTIE OF PERIPHERAL NERVE:

Charcot-Marie-Tooth Disease (CMT)
(Also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrofia (PMA))

Atassia di Friedreich (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)

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