randoms stuff that could be on the test with my luck

Question 1

Gerstmann syndrome

Answer 1

• rare neurological disorder
• L parietal lobe damage
• tetrad of agraphia (inability to write), acalculia (inability to perform mathematical calculations), finger agnosia (inability to name, discriminate, or identify fingers), and left-right disorientation (inability to distinguish left from right)

Question 2

hereditary transthyretin amyloidosis

Answer 2

• rare, issues with self care, motivation
• 4 stages
  1. mild autonomic dysfunction & sensory impairment in the legs
  2. disease progresses to include autonomic dysfunction and sensory impairment in the upper extremities
  3. more severe in the third phase a
  4. complete paralysis

Question 3

Bannayan-Riley-Ruvalcaba Syndrome (BRRS)

Answer 3

• rare genetic disorder
• growth of noncancerous tumors (lipomas) & small benign tumors (angiomas)
• developmental delays & intellectual disabilities
• LOW tone
• motor delay
• mild to severe mental impairments
• delayed speech
• seizures are prevalent
• accelerated growth and joint hyperextensibility that can affect hand function
• muscle weakness and fatigue after minimal exercise, generalized muscle pain

Question 4

Aarskog Syndrome/Faciodigito-genital Syndrome or Faciogenital Dysplasia

Answer 4

• rare, males
• face, skeleton, genital issues
• short stature, webbed appearance of hands and feet, hyperflexible joints, short and inwardly curved little finger, and delayed puberty
• round face, upper eyelid drooping over the eye
• broad nose bridge
• longer upper lip
• differences in side of the mouth with possible missing teeth (most striking)
• spine may be affected
• foot may be more flat
• slowness of thinking or mental slowness
• insecurities, anxiety, depression, and low self-esteem, seizures
• sensory processing
• hand-eye coordination and dexterity

play is most impacted: toys, social interaction with peers, and structured support by adults

difficulty opening of the hands due to tightening of the muscles (contractures)- treated with splints & therapy

Question 5

inherited epidermolysis bullosa

Answer 5

skin fragility leading to blister formation occurring spontaneously or following minor trauma

Question 6

Ehlers Danlos Syndromes (EDS)

Answer 6

• genetic - impacting structure and function of collagen & connective tissue proteins in the body
• joint hypermobility, joint instability, dislocations, scoliosis and other joint deformities

Question 7

Sanfilippo syndrome

Answer 7

• rare genetic condition
• increasingly severe cognitive decline, difficulties with sleep, mobility and speech as well as cardiac and neurological conditions

Question 8

KBG syndrome

Answer 8

• rare genetic disorder
• mutations on chromosome 16
• short stature, speech, hearing impairments, physical traits
• developmental delay or intellectual disability