Paraneoplastic Neuropathies
tips and tricks neuropathies secondary to the direct effects of malignancies The most common cause of neuropathy in patients with cancers is chemotherapy-induced neuropathy An infiltrative brachial plexopathy is more…
Dystrophinopathies
tips and tricks Keep dystrophin deficiency in the differential diagnosis for both muscle and cognitive complaints. Think of a dystrophinopathy in any male or female at any age presenting with…
Oculopharyngeal Muscular Dystrophy
Dysphagia usually follows ptosis by a few years, although it may precede ptosis in some patients. It tends to be more severe for solids than for liquids and can be…
Facioscapulohumeral Dystrophy
tips and tricks clinical features that raise suspicion for fshd Facial weakness and shoulder weakness with little or no lower extremity weakness Typical appearance of the shoulder: forward sloping shoulders,…
Toxic Myopathies
caution! muscle biopsy Muscle biopsy evidence of reversible statin myopathy can occur without any overt clinical symptoms and with normal creatine kinase (CK) levels. Therefore, the decision to proceed with…
Inflammatory Myopathies
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…
Hereditary Motor Sensory Neuropathies (Charcot–Marie–Tooth Disease)
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…
Approach to Diagnosis of Peripheral Nerve Disease
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…
Chronic Immune-mediated Demyelinating Polyneuropathies
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)…
Mitochondrial Myopathies
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…
