Some Possible Diagnoses

Here is a list of the more proper diagnoses some of our email list members have gotten:

Neuromuscular Disorders:

• Central Core Myopathy
  Typical symptoms: weakness & floppiness
  Cause: genetic, affects muscle tissue
• Nemaline Myopathy
  Typical symptoms: weakness & floppiness
  Cause: genetic, affects muscle tissue
• Congenital Myotonic Dystrophy
  Typical symptoms: weakness, delayed relaxation of muscles after contraction, slow progression
  Cause: genetic
• Congenital Myasthenia Gravis
  Typical symptoms: weakness and fatigability of muscles, including limbs, eyes, throat, and mouth.
  Cause: genetic, affecting neuromuscular transmission

Hypermobility Syndromes / Connective tissue disorders:

• Hypermobility Syndrome
• Ehlers-Danlos Syndrome
  Typical symptoms: hypermobile joints, soft velvet-like hyperextensible skin that bruises or tears easily.
  Cause: genetic

Miscellaneous Disorders:

• Angelman's Syndrome
  Typical symptoms: many variable symptoms, but at least: functionaly severe developmental delay, speech and verbal language impairment, movement/balance disorder, behavioral uniqueness
  Cause: genetic, neurological
• Asperger's Syndrome
  Typical symptoms: social isolation & eccentric behavior, clumsiness (speech and gross motor), circumscribed areas of interest
  Cause: Unknown
• Prader-Willi
  Typical symptoms: low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.
  Cause: genetic, affects the hypothalamus
• Laurence-Moon-Bardet-Biedl Syndrome (LMBBS)
  Typical symptoms: Eye signs (Retinitis pigmentosa or "rod-cone dystrophy"), polydactyly & brachydactyly, obesity, learning disabilities, developmental delay, speech deficit, and more.
  Cause: genetic, aetiology unknown
• Tay Sachs
  Typical symptoms: onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life.
  Cause: genetic, enzyme deficiency
• Macrocephaly-CMTC
  Typical symptoms: large head/forehead, mottled/blotchy skin and other distinctive marks, slowed growth, asymetrical development, hypotonia, hypermobility, developmental & speech delays, syndactyly, stretchy velvety skin, and more.
  Cause: genetic, probably a spontaneous mutation

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  The Benign Congenital Hypotonia Site
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  24-Jun-2002