Case history of spinal muscular atrophy


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Case history of spinal muscular atrophy

  1. 1. Case Presentation DR. HASSAB EL-RASOUL SIDDIG UNIT Omdurman Military Hospital Presented By: Dr. Kamal Abdel Azeem
  2. 2. Name : صفاء حمد عبدالرحمن Age : 12 years Sex : Female Residence : شندي Tribe : شايقية D.O.A : 28.8.03 C/O: Difficulty hearing Facial weakness Difficulty swallowing Difficulty speaking 7yrs
  3. 3. HPI: The pt. was an outcome of NVD at home, cried after resuscitation & took the breast. She passed through a normal milestones & fully vaccinated. At the age of 5yrs, she developed difficulty hearing and a few days later facial weakness. She was noticed to have inability to raise her brows or open her eyes. The condition associated with difficulty swallowing, especially fluids.
  4. 4. There was also difficulty speaking, her speech was low tone. No fluctuation in weakness was noticed. The whole process was not preceded by trauma, fever, sore throat, fatigability, nasal or ear discharge. No convulsion, abnormal movement, headache or syncopal attacks. No disturbance of smell. No UL, LL or truncal weakness. No sphincter disturbance.
  5. 5. <ul><li>Systemic Review: </li></ul><ul><li>CPS: </li></ul><ul><ul><li>No cough, no S.O.B, no chest pain. </li></ul></ul><ul><ul><li>No palpitation or LL swelling. </li></ul></ul><ul><li>GIT: </li></ul><ul><ul><li>Difficulty swallowing. </li></ul></ul><ul><ul><li>No heart burn, nausea or vomiting. </li></ul></ul><ul><ul><li>No abd. pain. </li></ul></ul><ul><ul><li>No change in bowel habits. </li></ul></ul>
  6. 6. <ul><li>Urinary : </li></ul><ul><ul><li>Urine of normal amount, colour & frequency. </li></ul></ul><ul><ul><li>No burning micturition or loin pain. </li></ul></ul><ul><li>MSS : </li></ul><ul><ul><li>No joint pain, or swelling. </li></ul></ul><ul><ul><li>No limitation of movement. </li></ul></ul><ul><ul><li>No skin changes. </li></ul></ul>
  7. 7. <ul><li>PMH: </li></ul><ul><ul><li>No P.H of similar condition or admission. </li></ul></ul><ul><ul><li>Not known to be diabetic, hypertensive or asthmatic. </li></ul></ul><ul><ul><li>No P.H of blood transfusion. </li></ul></ul><ul><ul><li>No P.H of six immunizable diseases. </li></ul></ul>
  8. 8. <ul><li>F.H: </li></ul><ul><ul><li>No F.H of similar condition from maternal or paternal side. </li></ul></ul><ul><ul><li>No F.H of DM, HT or asthma. </li></ul></ul>حمد عبدالرحمن 56 سنة جمال محمد الحسن 42 سنة 30yrs 28yrs 26yrs 8/12 22yrs 18yrs 12yrs G.E
  9. 9. <ul><li>D.H: </li></ul><ul><ul><li>Not on long term medication. </li></ul></ul><ul><ul><li>Not known to be allergic to any specific medications. </li></ul></ul><ul><li>S.H: </li></ul><ul><li>The father is a Soldier & now retired. </li></ul><ul><ul><li>Primary school educated. </li></ul></ul><ul><ul><li>Supporting of the family. </li></ul></ul><ul><ul><li>Of low S.E. status. </li></ul></ul>
  10. 10. <ul><li>O/E: </li></ul><ul><ul><li>Pt looked unwell, not P, J or C, a febrile,apprehensive & not cooperative </li></ul></ul><ul><ul><li>Pulse 70/min regular </li></ul></ul><ul><ul><li>BP 110/70 </li></ul></ul><ul><ul><li>RR 20/min regular </li></ul></ul><ul><ul><li>Pt is fully conscious, orientated in T,P,P of average intelligence & good memory. </li></ul></ul><ul><ul><li>Speech : of low tone. </li></ul></ul>
  11. 11. <ul><li>Cranial Nerves: </li></ul><ul><ul><li>Normal smell & vision </li></ul></ul><ul><ul><li>Normal full range eye movement </li></ul></ul><ul><ul><li>Bilateral ptosis </li></ul></ul><ul><ul><li>Bilateral LMN facial weakness </li></ul></ul><ul><ul><li>Severe weakness around the mouth, she support her chin while talking. </li></ul></ul><ul><ul><li>Sluggish palatal movement. </li></ul></ul><ul><ul><li>Tongue wasted & fasciculating. </li></ul></ul><ul><ul><li>Diminished hearing. </li></ul></ul><ul><ul><li>Rinnè &veber tests were impaired </li></ul></ul>
  12. 12. Flexion 3/5 Abduction –4/5 <ul><li>Normal position. </li></ul><ul><li>No wasting. </li></ul><ul><li>Normal tone & power. </li></ul><ul><li>Reflexes all++ </li></ul><ul><li>Sensation intact all modalities. </li></ul><ul><li>Normal position. </li></ul><ul><li>No wasting. </li></ul><ul><li>Normal tone& power. </li></ul><ul><li>Reflexes all++ </li></ul><ul><li>Planter reflexes  </li></ul><ul><li>Sensation intact all modalities. </li></ul>+ + + + <ul><li>Back : normal </li></ul><ul><li>Gait : normal </li></ul>
  13. 13. CVS RS NAD GIT MSS
  14. 14. Summary This is a 12 years old girl with bilateral ptosis,and facial and bulbar weakness and some hearing impairment of rapidly progressive course of 7 years duration. No family history of similar condition.
  15. 18. Video Clip Show 1
  16. 19. <ul><li>D.D: </li></ul><ul><li>Bulbar SMA . </li></ul><ul><li>Myaesthenia gravis. </li></ul><ul><li>Juvenil M.N.D : (Progression of the disease. The appearance of pyramidal signs is invariably along the disease course). </li></ul><ul><li>Congenital M. dystrophy + myopathies (CPK – EMG features). </li></ul><ul><li>Botulism (Acute reversible disease. No wasting or fasciculation). </li></ul><ul><li>Diphtheria. </li></ul><ul><li>Poliomyelitis (bulbar). (the course of the disease is characteristic). </li></ul><ul><li>Inflammatory neuropathy (sub-acute onset  improvement. (EMG + NCS+CSF). </li></ul>
  17. 20. Investigations: (1) CBC Hb : 12.1G/dl TWBCs 3.4 x 10 3 /cm HCT : 35% Neutropil 57% RBCs : 4 x 10 3 /cm Lymphocytes 40% MCV : 86.6FL Cosinophil MCH : 30.2pq Basophit 3 MCHC : 34.5g/d Monocyte ESR : 32mm/1hr Plt count:386 x 10 3 /cm Comment : normal morphology
  18. 21. <ul><li>(2) UG: Clear </li></ul><ul><li>(3) RFT </li></ul><ul><ul><li>Blood urea : 16mg/dl </li></ul></ul><ul><ul><li>S.creatine : 0.5mg/dl </li></ul></ul><ul><ul><li>S.Na+ : 140mmol/L </li></ul></ul><ul><ul><li>S.K+ : 4.3mmol/L </li></ul></ul><ul><li>(4) Liver function test : </li></ul><ul><li>T.Bilirubin 1.1mg/dl </li></ul><ul><li>T.Protein 6.4g/L </li></ul><ul><li>S.Albumin 4.3g/L </li></ul><ul><li>S.Globulin 2.1g/L </li></ul><ul><li>S.G.O.T 20U/L NR (3-18) </li></ul><ul><li>S.G.P.T 8U/L NR (2-16) </li></ul>
  19. 22. (5) S.CK : 42U/L NR (15-130) (6) Chest x-ray : Normal (7) EMG (8) NCS * Neostigmine test : -ve
  20. 23. Literature Review
  21. 24. <ul><li>These are clinically and genetically heterogenous diseases characterized by degeneration of the AHC of the spinal cord and bulbar motor nuclei. They lack long tract and P. nerve involvement. Synonyms: Bulbo-spinal m. atrophy. </li></ul><ul><ul><ul><li>Hereditary motor neuronopathy. Progressive m. atrophy. </li></ul></ul></ul>SPINAL MUSCULAR ATROPHIES
  22. 25. <ul><ul><li>They are classified according to: </li></ul></ul><ul><ul><li>1- Mode of inheritance. 2- Age of onset. 3- Distribution of muscle weakness. 4- Prognosis. </li></ul></ul><ul><ul><li>Classification was undergone revision through the years as improved diagnostic facilities revealed more of the underlying molecular and genetic abnormalities. </li></ul></ul>
  23. 26. Types: (A) Proximal limb involvement. I) Acute infantile SMA (Werdnig Hoffman) (AR). II) Chronic childhood SMA (Kugelberg Welander) (AR). III) Adult onset SMA (AR). IV) AD juvenile SMA. V) AD adults SMA. (B) Distal limb involvement 7 various forms which are indistinguishable from HSMN I,II (Charcot Marie Tooth). (C) Bulbo spinal form (Kennedy Syndrome) x-linked.
  24. 27. (D) Occulo pharyngeal – AD. (E) Bulbar SMA (AR). Type I : (With deafness) Vialetto-Van Laere syndrome. Type II : (Without deafness) Fazio-Londe disease. We believe our patient has bulbar SMA Type I, first reported by Vialetto in 1936 and later in 1966 by Van Laere. Onset is before age 20.
  25. 28. Characterized by sensorineural deafness. There is facial weakness with dysarthria, dysphagia (bulbar palsy). The progression is slow and course variable. Some patients reach adulthood. There may be generalized weakness with hypotonia and wasting. Reflexes in limbs are present. NCS + EMG demonstrate signs of AHC disease.
  26. 29. <ul><li>Diagnosis: </li></ul><ul><li>Characteristic history + physical exam. </li></ul><ul><li>CPK (normal). </li></ul><ul><li>CSF (normal). </li></ul><ul><li>NCS (normal). </li></ul><ul><li>EMG (characteristic changes of AHC disease. </li></ul><ul><li>5) Family history. </li></ul><ul><li>6) Genetic testing. </li></ul><ul><li>7) Muscle biopsy. </li></ul><ul><li>8) Spinal cord + brain stem histopathology (Autopsy). </li></ul>
  27. 30. <ul><li>Management: </li></ul><ul><li>No medical treatment. </li></ul><ul><li>Supportive management: </li></ul><ul><ul><li>* Physio – to improve mobility and prevent complication. </li></ul></ul><ul><ul><li>* Counseling. </li></ul></ul><ul><li>Pts with bulbar involvement assisted respiration& gastrostomy. </li></ul>
  28. 31. <ul><li>Prognosis: </li></ul><ul><ul><li>Varies with age of onset. </li></ul></ul><ul><ul><li>Early onset = early fatal outcome. </li></ul></ul><ul><li>Cause of death : </li></ul><ul><ul><li>Pneumonia. </li></ul></ul><ul><ul><li>Respiratory failure. </li></ul></ul><ul><ul><li>Inanition + malnutrition. </li></ul></ul>
  29. 32. Areas of Research: A) Genetic studies. 2 genes have been identify on chromosome 5 q : the survival motor neuron (SMN) gene, & (NAIP). the neuronal apoptosis inhibition protein as the names imply abnormalities in those genes (deletion) lead to neuronal death. B) Prenatal prediction & diagnosis of affected foetuses in families with the disease.
  30. 33. ThankYou ...
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