Muscular dystrophies

Muscular dystrophies are a group of genetic conditions that cause progressive muscle weakness and loss of muscle mass. Muscular dystrophies we treat include:

• Duchenne muscular dystrophy — a severe, early-onset form of muscular dystrophy that typically presents in childhood and progresses over time
• Becker muscular dystrophy — a milder, more slowly progressive form of muscular dystrophy
• Facioscapulohumeral muscular dystrophy — a hereditary condition that typically affects the muscles of the face, shoulders and upper arms
• Myotonic muscular dystrophy — characterized by progressive muscle weakness along with myotonia, or difficulty relaxing muscles after contraction
• Oculopharyngeal muscular dystrophy — a condition affecting the muscles of the eyelids and throat, which can lead to drooping eyelids and swallowing difficulty

Muscle disorders

Myopathies are diseases that directly affect muscle tissue, causing weakness that is not explained by nerve dysfunction. Some are genetic or metabolic in origin, while others result from inflammation of the muscle, which may respond to targeted therapy. Muscle disorders we treat include:

• Inflammatory myopathy (myositis): an inflammatory muscle disease that causes progressive weakness
• Inclusion body myositis — a slowly progressive muscle disease that typically affects older adults and often involves asymmetric weakness in the hands and legs
• Mitochondrial myopathies — conditions caused by dysfunction in the mitochondria, leading to muscle weakness
• Periodic paralysis — a group of inherited conditions that cause episodic attacks of muscle weakness or paralysis
• Pompe disease — a rare, inherited metabolic disorder caused by an enzyme deficiency that leads to progressive muscle weakness and breathing difficulties

Peripheral neuropathies and nerve disorders

Depending on the type and cause, peripheral neuropathies can lead to weakness, numbness, tingling or pain, and may be hereditary, immune-mediated or acquired. Peripheral nerve conditions we treat include:

• Acquired peripheral neuropathy
• Charcot-Marie-Tooth disease and other hereditary neuropathies — genetically inherited conditions that affect the peripheral nerves can cause progressive weakness and sensory loss, typically starting in the feet and legs
• Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) — a chronic, immune-mediated nerve condition related to Guillain-Barré syndrome that causes progressive or relapsing weakness
• Guillain-Barré syndrome — a rapidly progressive, immune-mediated condition that causes sudden weakness and requires prompt diagnosis and treatment
• Focal neuropathies, radiculopathy and plexopathy
• Small fiber neuropathy
• Toxic, nutritional, paraneoplastic, metabolic or endocrine-related neuropathies

Neuromuscular junction disorders

• Myasthenia gravis — an autoimmune condition that disrupts communication between nerves and muscles, causing fluctuating muscle weakness and fatigue
• Lambert Eaton myasthenic syndrome
• Congenital myasthenic disorders

Amyotrophic lateral sclerosis and other motor neuron diseases

• Amyotrophic lateral sclerosis (ALS)/Lou Gehrig's disease — a progressive condition affecting the motor neurons that control voluntary muscle movement. Familial and sporadic forms of ALS are the two main types.
• Progressive muscular atrophy (PMA)
• Primary lateral sclerosis (PLS)
• Spinal and bulbar muscular atrophy (Kennedy disease)

• Electromyography (EMG)
• EMG and repetitive nerve stimulation
• Genetic testing
• Nerve conduction studies
• Nerve ultrasound
• Skin biopsy
• Specialty studies including single fiber