Neuromuscular Diseases - DocNeuro

Carnitine palmitoyltransferase (CPT) deficiency

Naoum P. Issa MD PhD — Sun, 12 Oct 2014 21:20:33 +0000

Carnitine palmitoyltransferase II (CPT) deficiency is the most common inherited lipid-metabolism disorder in skeletal muscle. The adult form causes exercise-induced myalgias, myoglobinuria (myoglobin excretion into the urine) with rhabdomyolysis and myopathy. Triggers include fever, illness, and a high-fat dietary load. In severe cases with complete loss of enzyme function, the disease is fatal in infancy. […]

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McArdle Disease

Naoum P. Issa MD PhD — Sun, 12 Oct 2014 15:25:30 +0000

McArdle disease is a glycogen storage disease in which the enzyme muscle myophosphorylase is deficient. It is commonly known as glycogen storage disease V. The disorder is characterized by exercise-induced muscle pain, myoglobinuria and elevated serum CK sometimes to the degree of clinical rhabdomyolysis with renal dysfunction. Patients have a “second-wind” phenomenon once non-glycogen dependent […]

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Mitochondrial myopathy

Naoum P. Issa MD PhD — Sun, 12 Oct 2014 12:43:58 +0000

Mitochondrial myopathy can be caused by metabolic abnormalities related to mutations in the mitochondrial genome or mutations in the somatic genome that produce abnormal mitochondrial proteins. Pathologic findings in mitochondrial myopathy The classic findings of a mitochondrial myopathy on muscle biopsy are shown in the images below. These include: Ragged red fibers. This appearance is […]

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Pompe disease

Naoum P. Issa MD PhD — Sun, 16 Feb 2014 20:51:12 +0000

Pompe disease is an autosomal recessive lysosomal glycogen storage disease. Mutations in the acid alpha-glucosidase (GAA) gene on chromosome 17q25.2-q25.3 result in abnormal accumulation of glycogen within lysosomes and subsequent lysosomal dysfunction. Types of Pompe disease Infantile Pompe’s disease Infantile Pompe’s disease presents in the first months of life with failure to thrive, muscle weakness that manifests […]

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Motor Neuron Disease

Naoum P. Issa MD PhD — Sun, 15 Dec 2013 22:10:29 +0000

Loss of motor neurons in either the motor cortex or the anterior horn of the spinal cord causes paralysis. A variety of diseases affect these neurons, and specific diseases affect either the upper motor neuron or the lower motor neuron differentially. Amyotrophic lateral sclerosis (ALS, Lou Gehrig’s disease) is the best know of the motor […]

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Acetylcholine Pharmacology

Naoum Issa, MD, PhD — Tue, 02 Apr 2013 16:40:59 +0000

Brief review of the clinical pharmacology of acetylcholine, acetylcholinesterase and the ach receptor. Nicotinic Receptor Antagonists Antagonists of the nicotinic Ach receptor suppress muscle activity. Clinically this is seen in many situations: curare (and other agents like pancuronium) produces a “non-depolarizing” muscle block by antagonizing the nAchR at the NMJ. Increasing the Ach concentrations at […]

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High Yield Acetylcholine and Ach Receptors

Naoum P. Issa MD PhD — Tue, 02 Apr 2013 16:38:45 +0000

A summary of high yield clinical topics related to acetylcholine chemistry and acetylcholine receptors. Myasthenia Gravis In myasthenia gravis there are antibodies to nicotinic Ach receptors, so over the course of a day the nAchR in the NMJ get blocked and movement becomes sluggish. Acetylcholinesterase inhibitors, that slow the degradation of Ach therefore increasing the […]

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Acetylcholine

Naoum P. Issa MD PhD — Tue, 02 Apr 2013 16:36:41 +0000

Acetylcholine is one of the major neurotransmitters in the mammalian nervous system, found at all neuromuscular junctions, at all synapses in autonomic ganglia, at a variety of locations in the CNS and peripheral end organs. Acetylcholine Synthesis Acetylcholine is synthesized from a choline precursor and an acetyl group providing by Acetyl CoA (a cofactor). Choline […]

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Nernst Equation

Naoum P. Issa MD PhD — Tue, 02 Apr 2013 16:22:14 +0000

The Nernst equation describes the voltage across a cell membrane at which there would be no net flow of a particular ion (assuming there are ion channels that passed that ion). This voltage is called any of the following names “reversal potential,” “Nernst potential,” or “equilibrium potential” of an ion. Form of Equation The Nernst […]

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The Neuron Equivalent Circuit

Naoum P. Issa MD PhD — Tue, 02 Apr 2013 16:06:39 +0000

The electrical properties of neurons can described in terms of electrical circuits. This approach helps us understand how a neuron behaves when current flows into it (for example, when ion channels open), or why unmyelinated neurons conduct more slowly than do heavily myelinated neurons. The Neuron as RC Circuit Current can flow across the neuronal […]

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