Is myoclonic epilepsy considered a disability?

Is myoclonic epilepsy considered a disability?

While Myoclonic Epilepsy and Ragged Red Fibers Syndrome is now considered a Compassionate Allowance by the SSA, and therefore qualifies for expedited processing, the diagnosis alone is not enough to be found eligible for disability benefits. You must include substantial proof of disability in your application.

What is myoclonic epilepsy with ragged red fibers?

Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia , weakness, and dementia . Symptoms usually first appear in childhood or adolescence after normal early development.

How common is MERRF?

MERRF is a rare condition; its prevalence is unknown. MERRF is part of a group of conditions known as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.

Is myoclonus a disability?

Myoclonus creates significant disability for patients. This symptom or sign can have many different etiologies, presentations, and pathophysiological mechanisms. A thorough evaluation for the myoclonus etiology is critical for developing a treatment strategy.

What are myoclonic seizures?

Myoclonic seizures are characterized by brief, jerking spasms of a muscle or muscle group. They often occur with atonic seizures, which cause sudden muscle limpness.

What causes ragged red fibers?

This appearance is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber. These may extend throughout the muscle fiber as the disease severity increases. The mitochondrial aggregates cause the contour of the muscle fiber to become irregular, causing the “ragged” appearance.

How is Merrf diagnosed?

A clinical diagnosis of MERRF can be made based on the presence of four features: myoclonus (muscle spasms), generalized epilepsy (seizures), ataxia (impaired ability to coordinate movements) and abnormal muscle cells showing ragged red fibers (RRF) when a muscle biopsy is viewed microscopically.

What is myoclonic epilepsy with ragged red fibers (MERRF)?

Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem mitochondrial syndrome characterized by progressive myoclonus and seizures. Other features associated with MERRF include cerebellar ataxia, myopathy, cardiac arrhythmia, sensorineural hearing loss, optic atrophy, and dementia.

What are the symptoms of myoclonus syndrome?

Symptoms 1 Myoclonus (brief, sudden, twitching muscle spasms) – the most characteristic symptom. 2 Epileptic seizures. 3 Ataxia (impaired coordination). 4 Ragged-red fibers (a characteristic microscopic abnormality observed in muscle biopsy of patients with MERRF and other mitochondrial disorders).

What are ragged-red fibers (MERRF)?

These abnormal muscle cells are called ragged-red fibers. Other features of MERRF include recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), a loss of sensation in the extremities (peripheral neuropathy), and slow deterioration of intellectual function (dementia).

What is pathognomonic red-ragged muscle (MERRF)?

The pathognomonic red-ragged muscle fibers are seen on muscle biopsy. In 1980, Fukuhara et al. gave the first detailed clinical description of MERRF; hence this condition is also known as Fukuhara syndrome. MERRF is a rare disorder and is included in the National Organization for Rare Disorders (NORD).