Information Links to Specific Disorders

Comprehensive Information on Muscular Dystrophy, Neuromuscular Disorders and other contained within "The Home of MDA".

Includes links to OMIM and other credible sources

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Muscular Dystrophies:

Duchenne Muscular Dystrophy

• Duchenne MD & Becker MD Fact Sheet

• Duchenne MD OMIM overview

• Duchenne MD OMIM Dystrophin

• Becker MD OMIM overview

• DYSTROPHINOPATHIES (Comprehensive Clinical overview)

• DYSTROPHINOPATHIES: Duchenne

• DYSTROPHINOPATHIES: Becker

• CREATINE KINASE (CK) Levels

• Utrophin

• MEMBRANE-ASSOCIATED PROTEIN COMPLEXES IN SKELETAL MUSCLE FIBERS & CONNECTIVE TISSUE

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FacioScapuloHumeral Muscular Dystrophy

• FacioScapuloHumeral MD (Landouzy-Dejerine) Fact Sheet

• FSH MD OMIM overview

• FSH MD (FSH Society)

• Limb Girdle MD - Fact Shhet

• Limb Girdle MD - Syndromes

• Limb Girdle MD - Type 2C

• Limb Girdle MD - Type2I

• Limb Girdle MD -Epidermolysis Bullosa Simplex

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Congenital Muscular Dystrophy

• Congenital MD

• Congenital Myotonic Dystrophy


• Fukuyama MD

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"Other" - Muscular Dystrophies

• Bethlem Myopathy

• Distal

• Distal MD - Fact Sheet

• Distal Myoshi MD - Clinical Overview

• Emery-Dreifuss Dystrophy (MDA information)

• Emery-Dreifuss Dystrophy - Clinical Descrition

• Emery-Dreifuss Dystrophy - Clinical overview

• Kearns-Sayre Syndrome - Clinical Overview

• Muscular Dystrophy of Late Onset - Fact Sheet

• Opthalmoplegic MD

• Oculopharyngeal MD - Clinical Overview

• Oculopharyngeal MD OMIM overview

• Ullrich Muscular Dystrophy

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  Myotonic Dystrophies:

• Congenital Myotonic Dystrophy - Fact Sheet

• Myotonic Dystrophy (Steinert's Disease)

• Myotonic Information - Myt1

• Myotonic Dystrophy - Clinical overview

• Myotonic Information - OMIM overview

• Myotonic Information - Myt2

• Myotonic Myopathy- Proximal DM2

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Myotonia

• Myotonia Congenita (Thomsen's Disease)

• Paramytonia Congenita

• Chondrodystrophic Myotonia (Schwartz-Jampel)

• Neuromyotonia

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Spinal Muscular Atropies :

• Motor Neurone Disease (ALS)

• Infantile SMA Type I (MDA information)

• Infantile SMA Type I


• Severe SMA Type I - Infantile Progressive Spinal Muscual Atrophy (Werdnig-Hoffmann Disease)


• SMA


• Intermediate SMA Type II (MDA information)


• Intermediate SMA Type II


• Mild SMA Type III - Juvenile Progressive Muscular Dystrophy (Kugelberg-Welander Disease)



• Intermediate SMA Type III

• Adult SMA

• Adult Progressive Spinal Muscular Atrophy (Aran-Duchenne Type)

• X-linked Bulbospinal Neuropathy (Kennedy's Syndrome)

• SMA, Distal - Autosomal Recessive

• SMA,Distal Type V

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Inflamatory Myopathies:

• Polymyositis

• Polymyositis

• Dermatomyositis

• Dermatomyositis - Juvenile

• Inclusion Body Myositis

• Inclusion Body Myositis - Autosomal Recessive

• CIDP (Chronic Inflammatory Demyelinating Peripheral Neuropathy)

• CIDP

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Mitochonrial Myopathies:

• Mitochondrial Disease

• Mitochondrial Disease

• Mitochondrial Disease

• MELAS

• MERRF

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Diseases of Peripheral Nerve:

• HMSN Type I - Peroneal Muscular Atrophy or (Charcot-Marie-Tooth Disease)

• Dejerine-Sottas Disease

• Guillain Barre Syndrome

• Guillain Barre Syndrome

• Neuronal Type II - Peroneal Muscular Atrophy or (Charcot-Marie-Tooth Disease)

• Hypertophic Type III - Dejerine-Sottas Disease

• Type IV - X-linked Charcot-Marie-Tooth Disease

• Friedreich's Ataxia

• Friedreich's Ataxia

• Friedreich's Ataxia

• Friedreich's Ataxia

• Spino Cerebellar Ataxia

• Tomaculous Neuropathy

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Diseases of the Nuromuscular Junction:

• Myasthenia Gravis Juvenile & Adult

• Myasthenia Gravis

• Congenital Myasthenic Syndromes

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Metobolic Disease of the Muscles:

• Carnitine Deficiency

• Myoadenylate Deaminase Deficiency

• Periodic Paralysis

• Phosphoglycerate Kinase

  Sub Group - Glycogen Storage Disease:

  • Type I - (Von Gierke's Disease)

  • Type II - Acid Maltase Deficiency (Pompe's Disease)

  • Type III - Debrancher Enzyme Deficiency (Cori's or Forbe's Disease)

  • Type IV - Brancher Enzyme Deficiency (Andersen)

  • Type V - Phosphorylase Deficiency (McArdle's Disease

  • Type VI - Phosphfructokinase Deficiency (Tarui's Disease)

  • Type VII - Phosphfructokinase Deficiency

  • Type VIII - Phosphfructokinase Deficiency

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Congenital Myopathies:

• Central Core Disease

• Central Core Disease

• Mini / Multi Core Disease

• Nemaline Myopathy

• Nemaline Myopathy

• Myotubular (Centronuclear) Myopathy

• Fibre-Type Disproportion

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Periodic Paralysis:

• Hypokalaemic

• Hyperkalaemic

• Idiopathic Myopathy

• Malignant Hyperthermia Susceptibility to 1

• Malignant Hyperthermia Susceptibility to 2

• Malignant Hyperthermia Susceptibility to 3

• Malignant Hyperthermia Susceptibility to 4

• Malignant Hyperthermia Susceptibility to 5

• Malignant Hyperthermia Susceptibility to 6

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