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Mutation of the DMPK gene causes myotonic dystrophy type 1 (DM1). Mutation of CNBP gene causes type 2 (DM2). [1] DM is typically inherited, following an autosomal dominant inheritance pattern, [1] and it generally worsens with each generation. [1] A type of DM1 may be apparent at birth. [1] DM2 is generally milder. [1] Diagnosis is confirmed by ...
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm.
Milwaukee shoulder syndrome (MSS) (apatite-associated destructive arthritis/Basic calcium phosphate (BCP) crystal arthritis/rapid destructive arthritis of the shoulder) [1] is a rare [2] rheumatological condition similar to pseudogout, associated with periarticular or intra-articular deposition of hydroxyapatite or basic calcium phosphate (BCP) crystals.
Neuromyotonia is a type of peripheral nerve hyperexcitability. Peripheral nerve hyperexcitability is an umbrella diagnosis that includes (in order of severity of symptoms from least severe to most severe) benign fasciculation syndrome, cramp fasciculation syndrome, neuromyotonia and morvan's syndrome. Some doctors will only give the diagnosis ...
Life expectancy may be shortened by respiratory complications arising from weakness of the muscles that aid breathing and swallowing. It was first described in four patients by Vucic and colleagues [ 3 ] working at the Massachusetts General Hospital in the United States ; subsequent reports from the United Kingdom, [ 4 ] Europe and Asia [ 5 ...
Myasthenia gravis, or MG, is a chronic autoimmune neuromuscular disorder that causes muscle weakness and fatigue. Myasthenia gravis is one of the rarest and most concerning muscular disorders ...
Schwartz–Jampel syndrome (SJS, also known as chondrodystrophic myotonia) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2) [1] which causes osteochondrodysplasia associated with myotonia. [2] Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy. [3]
Age of onset is highly variable, although symptoms usually appear between 8 and 15 years of age. [3] Patients usually lose the ability to ambulate 10 – 20 years after symptoms appear. [ 3 ] Milder forms present with symptoms other than weakness, such as muscle aches, cramps, or exercise intolerance, and people in this group can retain ...