Neuromuscular Symptoms and Conditions

Diseases of the Neuromuscular Junction:

Symptoms:

• Congenital myasthenia gravis syndrome

• Myasthenia gravis

• Lambert-Eaton syndrome

Double vision, droopy eyelids, swallowing problems, chewing problems, muscle weakness of arms and/or legs

Diseases of Peripheral Nerve/Neuropathy:

Symptoms:

• Brachial plexopathy - also known as Parsonage Turner syndrome

Pain in shoulder and weakness of arms

• Charcot Marie Tooth (CMT) and other hereditary neuropathies

Neuropathy with high arch feet and hammer toes, weakness of legs and hands, numbness of feet, painful feet; may be family history

• Chronic inflammatory demyelinating polyneuropathy (CIDP)

Weakness and numbness of arms and legs

• Guillain-Barre syndrome

Acute onset of weakness or sensory symptoms

• Friedreich’s ataxia

Difficulty walking

• Vasculitis

Pain, weakness, numbness of arms and legs

Metabolic Diseases of Muscle:

Symptoms:

• Acid maltase deficiency

• Carnitine deficiency

• Carnitine palmityl transferase deficiency

• Cytochrome oxidase deficiency

• Debrancher enzyme deficiency

• Lactate dehydrogenase deficiency

• Mitochondrial myopathy

• Myoadenylate deaminase deficiency

• Phosphofructokinase deficiency

• Phosphoglycerate kinase deficiency

Muscle weakness, dark-colored urine myoglobinuria, elevated CK or CPK, muscle fatigue, muscle cramps

Motor Neuron Diseases:

Symptoms:

• Amyotrophic lateral sclerosis (ALS) – also known as Lou Gehrig’s disease

• Spinal bulbar muscular atrophy (SBMA) – also known as Kennedy’s disease and X-linked SBMA

• Spinal muscular atrophy (SMA) – adult, infantile progressive, intermediate and juvenile (Juvenile is also known as SMA Type 3, Kugelberg-Welander and “floppy baby”)

Muscle weakness

Muscular Dystrophies:

Symptoms:

• Duchenne muscular dystrophy (DMD)

• Becker muscular dystrophy (BMD)

• Limb-Girdle muscular dystrophy (LGMD)

• Myotonic dystrophy

• Congenital muscular dystrophy

• Distal muscular dystrophy

• Emery-Dreifuss muscular dystrophy

• Facioscapulohumeral muscular dystrophy (FSH)

• Oculopharyngeal muscular dystrophy

Muscle weakness, delayed development, muscle fatigue

Myopathies:

Symptoms:

• Central core disease

• Congenital fiber type disproportion

• Congenital myopathy

• Dermatomyositis - inflammatory

• Fibromylagia

• Hyperthyroid myopathy – due to endocrine abnormalities

• Inclusion body myositis - (IBM) – inflammatory

• Multi-minicore disease

• Myotonia congenita

• Myotubular myopathy

• Nemaline myopathy

• Paramyotonia congenita

• Periodic paralysis

• Polymyositis - inflammatory

Skin rash, muscle weakness, swallowing problems, numbness and tingling, foot pain, delayed development, muscle pain