science revisited Recent studies suggest that the type 1 interferon pathway is very active in dermatomyositis, providing opportunities for developing diagnostic biomarkers and therapeutic approaches. Polymyositis The term “polymyositis” encompasses…
HMSN1A HMSN1B HMSN1XCMT1A–F Key genes: PMP22 duplication, mutations of MPZ, LITAF/SIMPLE, EGR2, NEFL CMT1X (X-linked) Key gene: GJB1HMSN2 (dominant axonal): median or ulnar motor conduction velocity >38 m/sAD-CMT2A–N Some key…
tips and tricks When symptoms and signs indicate involvement of only one of the three fiber types the differential diagnosis is narrowed, e.g. severe sensory neuropathies associated with sensory limb…
science revisited An autoimmune–inflammatory etiology for CIDP has been proposed based on: (1) clinical observations describing infections and immunizations triggering onset and exacerbations of various forms of the disorders; (2)…
science revisited Mitochondria are essential for the production of adenosine triphosphate (ATP), the energy currency of the cell. Reducing equivalents (electrons), mainly derived from the catabolism of fatty acids and…
tips and tricks toxic neuropathies. Most toxic neuropathies occur together with exposure to the toxin. The duration and level of toxin exposure usually correspond to neuropathy severity. The most common…
DMPK, CTG expansionChromosome 3 Zinc finger protein 9, CCTGInheritanceAutosomal dominantAutosomal dominantAge of onsetInfancy – adulthood, varies with severity and number of repeatsChildhood –adulthood, varies with severity and number of repeatsTypical…
science revisited neuromuscular transmission The steps involved in neuromuscular transmission are: Motor nerve depolarization produces action potentials Sodium enters the nerve through voltage-gated sodium channels Repolarization of motor nerves, stopping…
caution! Patients with mutations in SEPN1 and TPM3 may develop nocturnal hypoventilation while fully ambulant and monitoring of respiratory function from early ages is advised in proven or suspected cases….
tips and tricks Distal myopathies are frequently confused with inherited sensorimotor neuropathies. Consider a distal myopathy when: there is insidious onset of distal weakness without sensory symptoms the extensor digitorum…
