1. HEREDITARY SPASTIC PARAPLEGIA Dr.Y.Sasikumar

2. Hereditary spastic paraplegia (HSP) is a large group of inherited neurologic disorders, in which the prominent feature is a progressive spastic paraparesis.

3. Dr. Str ü mpell first described hereditary forms of spastic paraplegia in 1883. HSP is group of genetic disorders , the modes of inheritance: autosomal dominant, autosomal recessive, Mitochondrial inheritance and x-linked recessive. Hereditary spastic paraplegia (HSP) is also called familial spastic paraparesis .

4. In Europe, the frequency of HSP is estimated to be 1-9 cases per 100,000 population.. HSP may occur at any age, from infancy through late adulthood (eg, 85 y). Most patients experience the onset of symptoms between the second and fourth decades of life.

5. Degeneration of the ends of the corticospinal tracts within the spinal cord. The ends of the longest fibers, which supply the lower extremities, are affected to a much greater extent than are the fibers to the upper body. Most people with HSP do not have symptoms in the hands or arms. PATHOPHYSIOLOGY

7. More particularly axonal transport of macromolecules and organelles.

9. Paraplegin , an ATP-dependent proteolytic complex located at the mitochondrial inner membrane, which controls protein quality and regulates ribosome assembly.

11. CLASSIFICATION Hereditary Spastic Paraplegias are classified Based on the symptoms (pure form versus complicated form); Based on their mode of inheritance (autosomal dominant, autosomal recessive or x-linked) Based on the patient’s age at onset.

13. Spasticity in the lower limbs alone is described as pure HSP.

14. Complicated HSP, additional symptoms may include peripheral neuropathy, epilepsy, ataxia, optic neuropathy, retinopathy, dementia, ichthyosis, mental retardation, deafness, and problems with speech, swallowing.

18. autosomal recessive

19. Mitochondrial inheritance

20. x-linked recessive.Autosomal dominant represents the most common mode of inheritance

22. 18 types of dominantly inherited pure or complicated HSP are known.

23. 17 types of recessively inherited HSP.

27. Patients usually have difficulty lifting their toes; as a result, they drag their toes when walking.

28. In later stages, patients experience difficulty flexing the thigh muscle when walking.

30. Some people also experience urinary problems (eg, incontinence)

32. Uncontrollable shaking of the legs may be noted when the patient ambulates.

35. In the lower extremities, muscle tone is increased at the hamstrings, quadriceps, and ankles.

38. Vibratory sensation is often mildly diminished in the distal lower extremities.

40. Ankle clonus, and extensor plantar responses are uniformly present.

41. Hoffman sign may be observed.

46. Neuronal cell bodies of degenerating fibers are preserved.

49. Exercise may also help to slow the development of disuse atrophy.

51. These improve cardiovascular fitness, reduce fatigue, and increase endurance and general fitness.

57. Various medications prescribed for HSP cause drowsiness & fatigue.

58. Many patients with HSP may not get their required amount sleep, because of leg cramps or spasms or as a result of the frequent need to urinate during the night. Stress and depression

59. THANK YOU