Conditions

Conditions Covered by the Neuromuscular Alliance

MUSCULAR DYSTROPHIES:

Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy
Limb-Girdle Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
Myotonic Dystrophy
Oculopharyngeal Muscular Dystrophy
Distal Muscular Dystrophy
Congenital Muscular Dystrophy

MOTOR NEURON DISEASES:

Infantile Progressive Spinal Muscular Atrophy
(Also known as SMA Type 1 or Werdnig-Hoffman)
Intermediate Spinal Muscular Atrophy (Also known as SMA Type 2)
Juvenile Spinal Muscular Atrophy
(Also known as SMA Type 3 or Kugelberg-Welander)
Spinal Bulbar Muscular Atrophy
(Also known as Kennedy's Disease and X-Linked SBMA)
Adult Spinal Muscular Atrophy
Spinocerebellar Ataxia

METABOLIC DISEASES OF MUSCLE:

Phosphorylase Deficiency
(Also known as McArdle's Disease)
Acid Maltase Deficiency (AMD)
(Also known as Pompe's Disease)
Phosphofructokinase Deficiency
(Also known as Tarui's Disease)
Debrancher Enzyme Deficiency
(Also known as 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

DISEASES OF PERIPHERAL NERVE:

Charcot-Marie-Tooth Disease (CMT)
(Also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy)
Friedreich's Ataxia (FA)
Dejerine-Sottas Disease (Also known as CMT Type 3 or Progressive Hypertrophic Interstitial Neuropathy)

INFLAMMATORY MYOPATHIES:

Dermatomyositis
Polymyositis
Inclusion Body Myositis

DISEASES OF THE NEUROMUSCULAR JUNCTION:

Myasthenia Gravis
Lambert-Eaton Syndrome
Congenital Myasthenic Syndrome

MYOPATHIES DUE TO ENDOCRINE ABNORMALITIES:

Hyperthyroid Myopathy
Hypothyroid Myopathy

OTHER MYOPATHIES:

Myotonia Congenita
(Two forms: Thomsen's and Becker's Disease)
Paramyotonia Congenita
Central Core Disease
Nemaline Myopathy
Myotubular Myopathy
Periodic Paralysis
Hereditary Spastic Paraplegia (HSP) (also called Familial Spastic Paraparesis)