Mitochondrial Disorders



Mitochondrial Disorders
‫תיאור מקרה‬
‫פרופ' מנחם שדה‬
‫מרכז רפואי ע"ש ולפסון‪ ,‬חולון‬
‫בן ‪ .46‬יליד הארץ‪ .‬שולל מחלות נוירולוגיות במשפחתו‪.‬‬
‫התגייס לצה"ל ב‪ .1985-‬השתחרר בשנת ‪ 1990‬ולמד לתואר‬
‫ראשון ושני בפסיכולוגיה‪.‬‬
‫התגייס שנית ב‪ 1997-‬עם פרופיל ‪ 97‬ושירת עד לאחרונה‬
‫בתחום בריאות הנפש ומדעי ההתנהגות‪.‬‬
‫השתחרר באפריל ‪ 2012‬בדרגת רס"ן‪.‬‬
‫התחיל לעבוד כפסיכולוג‪.‬‬
‫בשנת ‪ 2001‬התגלתה תימומה בצורה מקרית‪ ,‬לאחר‬
‫שהיה חשד לדלקת ריאות ובוצע צילום חזה‪.‬‬
‫הוא נותח והתימומה נכרתה‪.‬‬
‫ב‪ 12.1.10-‬קיבל חיסון כנגד שפעת החזירים‪.‬‬
‫ב‪ 3.3.10-‬נבדק בחדר המיון בהדסה עין כרם בשל ראיה‬
‫כפולה במבט שמאלה במשך שבועיים‪.‬‬
‫‪ CT‬ראש היה תקין‪.‬‬
‫‪ MRI‬מוח היה תקין‪.‬‬
‫הוא הופנה לבדיקת נוגדנים לקולטן לאצטיל כולין‪.‬‬
‫רמת הנוגדנים היתה גבוהה‪.‬‬
‫הוא אובחן כלוקה במיאסטניה גרביס‪ .‬טיפול במסטינון לא‬
‫במקביל הופיעו התכווצויות שרירים ספונטניות במקומות‬
‫שונים בגוף ולאחר הקשה על השריר‪.‬‬
Rippling Muscle diseae: Hereditary, Dominant
1975 -Torbergsen reported a myopathy in a Norwegian
family with stiffness after exercise, irritable muscles with
percussion-induced muscle mounding rippling, muscle
hypertrophy, and hyper-CKemia.
1989 - Ricker et al named the disease rippling muscle disease,
they noted that the rippling was electrically silent.
1999 - Vorgerd et al. stressed percussion-induced rapid
contraction (PIRC) as an important hallmark of the disease.
2001 - Betz et al. reported a loss of caveolin-3 in muscle biopsy
specimens, and genetic analysis revealed missense mutations
Mutations in Caveolin-3 also cause:
Increased CK with normal strength
Distal myopathy
Cardiomyopathy, familial hypertrophic
Long QT syndrome 9
Usual: 1st or 2nd decades
Range: 5 to 54 years
15% asymptomatic
Muscle cramps, pain & stiffness
Legs > Arms
Neck stiffness in some patients
Worse with: Exercise; Occasionally cold
Toe walking: On awakening or after rest
Rippling of muscle: Wave-like
Evoked by: Muscle stretch
Moves laterally along muscle over 5 to 20 seconds (0.6 M/s)
10x slower than muscle fiber action potential
Electrically silent
Present in 60% of patients
Localization: Especially prominent in large proximal muscles
Mounding of muscle
(Myoedema)Evoked by
percussion: All patients
Prominent in thenar eminence
Differential diagnosis: Malnutrition;
Cachexia; Hypothyroidism
Arch Neurol. 1996 Feb;53(2):197-9.
Rippling muscles and myasthenia gravis with rippling muscles.
Ansevin CF, Agamanolis DP.
To describe a patient with rippling muscles and myasthenia gravis.
Clinical, laboratory, electrophysiologic, and muscle biopsy data are reported.
We describe a patient with rippling muscles (as seen in rippling muscle disease) and
myasthenia gravis (MG) with thymoma. There was no family history of rippling muscle
disease in our patient. Diplopia and other symptoms of MG were initially overshadowed by
the striking rippling phenomenon. The rippling resolved when the MG became florrid.
The patient was treated with pyridostigmine, prednisone, and plasmaphereses before
removal of a thymoma.
His MG improved with treatment and the rippling has not recurred 4 months after
Rippling muscle disease is rare and usually inherited. Our patient with rippling muscles (but
no family history of rippling muscle disease) and MG suggests that rippling muscles may
also be triggered by an autoimmune phenomenon.
2. Vernino S, Auger RG, Emslie-Smith AM, et al
Myasthenia, thymoma, presynaptic antibodies, and a continuum of neuromuscular
hyperexcitability. Neurology1999;53:1233–9.
3.Vernino S, Lennon VA
Ion channel and striational antibodies define a continuum of autoimmune neuromuscular hyperexcitability. Muscle
Nerve 2002;26:702–7.
4. Muller-Felber W, Ansevin CF, Ricker K, et al
Immunosuppressive treatment of rippling muscles in patients with myasthenia gravis.
Neuromuscul Disord 1999;9:604–7.
5. Greenberg SA
Acquired rippling muscle disease with myasthenia gravis. Muscle Nerve 2004;29:143–6.
6. Schulte-Mattler WJ, Kley RA, Rothenfusser-Korber E, et al
Immune-mediated rippling muscle disease. Neurology 2005;64:364–7.
7.Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, et al.
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term followup in two. Neuromuscul Disord. 2009 Mar;19(3):223-8.
8.van Schaik SM, Kwa VI, van der Kooi AJ.
Acquired rippling muscle disease associated with mild myasthenia gravis: a case report.
J Neurol. 2009 Jul;256(7):1187-8
9. J S George, S Harikrishnan, Ali R Baresi, C O Hanemann
Acquired rippling muscle disease in association with myasthenia gravis
Neurol Neurosurg Psychiatry 2010;81:125-126
Caveolin stain
Rippling Muscle Syndrome, Sporadic Associated with Thymoma , Myasthenia gravis:
Rippling muscles may precede dx of MG
Onset: 30 to 55 years
Clinical features: Cramps induced by exercise or touching muscle
Rippling muscles
May be painful
Distribution: Cranial; Proximal; Distal
Bulbar: Dysphagia; Dysarthria
Weakness: Proximal; Some patients
Sensation & Tendon reflexes: Normal
Serum CK: Mildly elevated up to 2000
Muscle biopsy
Inflammation, lymphocytic: CD4 & B-cells; Some patients
Myopathic: Varied fiber size
MHC-1: Upregulated, especially in fibers with reduced caveolin-3
Caveolin-3: Reduced in mosaic pattern; Reduced or Normal by Western blot
EMG: Normal or Myopathic; Cramps are silent
MRI: Myopathic changes in muscle
Immunosuppression: Prednisone or Azathioprine; Benefit over 2 to 4 months
Exacerbated by Pyridostigmine
Acquired rippling muscle disease without evidence of
myasthenia gravis or acetylcholine receptor autoantibodies.
Electrically active immune-mediated rippling muscle
disease preceding breast cancer.

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