Â鶹´«Ã½Ó³»­

Â鶹´«Ã½Ó³»­

Explore the latest content from across our publications
Join The Â鶹´«Ã½Ó³»­

Log In

Forgot Password?
Create New Account

Loading... please wait

Abstract Details

Late-onset Multiple acyl-CoA dehydrogenase deficiency with proximal myopathy
Neuromuscular and Clinical Neurophysiology (EMG)
Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)
017
To describe a case of late onset of Multiple acyl-CoA dehydrogenase deficiency (MADD). 
MADD is a riboflavin responsive autosomal recessive disorder usually caused by mutations involved in the mitochondrial respiratory chain (ETFA, ETFB, and ETFDH). It can present early in life with (type I) or without congenital abnormalities (type II) or have a late onset (type III). The mean onset of age is reported to be 19.2 years. Symptoms commonly include exercise intolerance, myalgias and proximal weakness, but at times can present with sensory neuropathy.
Case report.
70-year-old male was referred to the clinic for left upper extremity tremor, difficulty walking for a year with no associated radicular pain or paresthesia in both upper and lower extremities. He also had some recent short-term memory issues. No history of seizures. On exam, he had weakness in hip flexors (MRC 3/5) and hip abductors (MRC 2/5). Aldolase and creatine kinase were elevated to 10.9 and 809 respectively; and he was asked to discontinue statin for likely statin-induced myopathy. Magnetic resonance imaging of brain & lumbar spine was unremarkable. Electromyography and nerve conduction studies showed evidence of proximal irritative myopathy on both lower limbs with no large fiber polyneuropathy or motor neuronopathy. Muscle biopsy of vastus lateralis showed lipid storage myopathy with associated scattered regenerating and necrotic muscle fibers. Several acylcarnitine species were elevated on the acylcarnitine panel with heterozygous ETFDH mutation on genetic testing. MADD type III was diagnosed based on clinical features, biochemical, biopsy and genetic testing.
It is crucial to recognize MADD early on since the late onset variant is potentially reversible with riboflavin treatment.
Authors/Disclosures

PRESENTER 		No disclosure on file
Prashant Natteru, MBBS (Mayo Clinic Health System) Dr. Natteru has nothing to disclose.
Saurabh G. Shukla, MD (Lone Star Neurology) Dr. Shukla has nothing to disclose.