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Thread: Rigid Spinal Cord

  1. #1
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    Rigid Spinal Cord

    Dr. Young, Spinal Nurses or Anyone

    It would be highly appreciated if you could share any valuable information, experience and knowledge of the rare condition called - Rigid Spinal Cord. I'm trying to assist a local South African family who made a desperate appeal on the morning TV news today, to the nation and overseas countries, to come forward and share anything that they know about this condition. Is there a cure for it? Is there any reseacrh being done - any clinical trials, etc? Thank you in advance for any contribution made.

  2. #2
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    Correction - the condition is actually known as "Rigid Spine Disorder" or "Spinal Dystrophy".

  3. #3
    Shawn, I don't know this condition. Is it perhaps a name for spondylosis or osteoarthritis of the spine? Wise.

  4. #4

    Spinal Distrophy

    I've heard of it and, actually knew a girl who suffered from this. Dr. Young, maybe by me explanation of her condition, you can figure the right name for it in English?
    It's supposed to be a problem at the end of the cord, where it starts debilitating to the point of leaving the person paraplejic. She was born with this (and all other cases I've heard of, they were born with it) She used to walk as a kid a little but needed assisting devices but, eventualy, she simply couldnt do it no more, her legs never developed to an adult point, they remained like a 6 year old maybe?
    She had other problems that left her blind but, thats another story.
    Maybe I'm getting the condition name mixed up but, I'm almost sure she suffers from Spinal Distrophy.

    Dr. Young, I know I'm veryyyyyyyy bad describing things but, r u able to narrow it down with this?

    ...It's the heart afraid of breaking,that never learns to dance... It's the dream afraid of waking that never takes the chance... It's the one who won't be taken, who cannot seem to give, and the soul afraid of dyin'... That never learns to live...

  5. #5
    I found it. It is called Rigid Spine Syndrome and it is a form of muscular dystrophy that is associated with a rigid spine. There is, to my knowledge and search, no effective treatment. Most of the papers focus on how to diagnose the condition. The rigid spine part is a variable feature.

    Wise.

    • Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP and Leppert M (2000). Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. Ann Neurol. 47 (2): 152-61. Summary: Rigid spine syndrome is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal contractures as a prominent feature. While spinal rigidity is a nonspecific feature, found in Emery-Dreifuss muscular dystrophy and in some congenital myopathies, it is also a prominent feature in a group of patients with merosin-positive congenital muscular dystrophy, where it is generally associated with stable or only slowly progressive weakness and early respiratory insufficiency. Recently, the first locus for congenital muscular dystrophy in association with rigid spine syndrome was mapped to chromosome 1p35-p36 in consanguineous Moroccan, Turkish, and Iranian families. We present here a detailed phenotypic description of the familial syndrome linked to this locus, describing 4 siblings (3 boys and 1 girl) of Northern European-American heritage who are the offspring of a nonconsanguineous marriage. All 4 siblings were affected by hypotonia and prominent neck weakness in infancy, early spinal rigidity, and early scoliosis. After initial improvement, muscle strength stabilizes or slowly declines, and skeletal deformities and respiratory insufficiency supervene. Muscle biopsy in an affected child at age 9 months revealed minimal, nonspecific myopathic changes, leading to a diagnosis of "minimal change myopathy." Muscle biopsy in his sibling, at the age of 14 years, revealed chronic and severe myopathic (dystrophic) changes, with normal staining for laminin-2 and for proteins of the dystrophin-glycoprotein complex. A possible explanation for these biopsy findings is that magnetic resonance imaging of the thighs reveals stereotyped selective muscle involvement, with the selectivity more pronounced early in the disease course followed by widespread muscular signal abnormalities in the late stages of the disease. In this family, linkage to the chromosome 1p rigid spine syndrome locus (RSMD1) is supported by maximum LOD scores for several markers of 1.81 at theta = 0, representing the maximum statistical power possible for this family. In combination with the previous report, this syndrome is linked to the RSMD1 locus with a summated maximum LOD score of 6.29, and analysis of recombination events in our family narrows the previously reported RSMD1 locus to 3 centiMorgans. Department of Neurology, University of Utah, Salt Lake City, USA.

    • Drndarski I and Todorovic S (1989). [The rigid spine syndrome]. Srp Arh Celok Lek. 117 (7-8): 519-30. Summary: Five patients with the clinical picture of rigid spine syndrome are presented. Three of them were females. All these patients fulfilled the clinical criteria for rigid spine syndrome. On the basis of the analysis of these patients and the data from literature, it was established that Dystrophia musculorum progressiva--Emery-Dreifuse was one of the causes of rigid spine syndrome in one patient. In the other four patients unspecific myopathic changes were found. The only common feature was marked proliferation of endomysium and perimysium (connective tissue). An effort was made to solve the nosological problems on the contemporary level of knowledge. The heterogenous group of rigid spine syndrome was divided into the three subgroups: 1) Rigid spine syndrome with nosologically determined neuromuscular disorder; 2) Rigid spine syndrome on myopathic basis, but nonspecific and unrecognizable as an entity; 3) Rigid spine syndrome with disorders of non-neuromuscular origin, but with that related to bones, joints or connective tissue.
    • Goebel HH, Halbig LE, Goldfarb L, Schober R, Albani M, Neuen-Jacob E and Voit T (2001). Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. Neuropediatrics. 32 (4): 196-205. Summary: At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively. Myopathologically, these muscle tissues contained numerous inclusions which, at the ultrastructural level, turned out to be reducing bodies and cytoplasmic bodies, often in close spatial proximity. Similar histological inclusions, although not further identified by histochemistry and electron microscopy, were seen in his maternal grandmother's biopsied muscle tissue who had developed weakness of the legs and hands after the age of 50 years. The patient's parents were healthy, but the mother's quadriceps muscle showed an increased spectrum of muscle fibre diameters. Our patient, thus, had a neuromuscular disorder, perhaps familial, presenting as a mixed congenital myopathy, i.e., reducing body myopathy with cytoplasmic bodies, of which the morphological lesions could be consistently documented over several years in his different limb muscles. While other mixed congenital myopathies had shown cores and rods, both related to sarcomeres and thus possibly morphogenetically related, cytoplasmic bodies thought to be related to Z-bands and reducing bodies dissimilar to any muscle fibre constituent do not share any common denominator. Therefore, we suggest that this neuromuscular disorder may be a unique mixed congenital myopathy, either sporadic or genetic. In the latter case, the transmission pattern suggested X-linked recessive inheritance, but an autosomal-dominant transmission with variable penetrance could not be ruled out. Department of Neuropathology, Medical Center, Johannes Gutenberg University, Mainz, Germany. goebel@neuropatho.klinik.uni-mainz.de.
    • Jorgensen BG, Laub M and Knudsen RH (1999). Anaesthetic implications of rigid spine syndrome. Paediatr Anaesth. 9 (4): 352-5. Summary: The perioperative management of a 14-year-old girl, suffering from the muscular disorder rigid spine syndrome, is presented. The anaesthetic implications with regard to possible difficult intubation, cardiac involvement, malignant hyperthermia, neuromuscular blocking agents, and postoperative recovery are discussed. Department of Anaesthesia, Center of Head and Orthopaedics and Respiratory Center East, Copenhagen University Hospital, Righospitalet, Copenhagen, Denmark.
    • Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Roy SQ, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H and Guicheney P (2001). Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 29 (1): 17-8. Summary: One form of congenital muscular dystrophy, rigid spine syndrome (MIM 602771), is a rare neuromuscular disorder characterized by early rigidity of the spine and respiratory insufficiency. A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref. 1). Here we refine the locus and find evidence of linkage disequilibrium associated with SEPN1, which encodes the recently described selenoprotein N (ref. 2). Our identification and analysis of mutations in SEPN1 is the first description of a selenoprotein implicated in a human disease. INSERM U523, Institut de Myologie, Groupe Hospitalier Pitie-Salpetriere, 47 boulevard de l'Hopital, 75651 Paris CEDEX 13, France.
    • Moghadaszadeh B, Topaloglu H, Merlini L, Muntoni F, Estournet B, Sewry C, Naom I, Barois A, Fardeau M, Tome FM and Guicheney P (1999). Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. Neuromuscul Disord. 9 (6-7): 376-82. Summary: Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure. This phenotype may be associated with several muscular diseases. In cases of merosin-positive congenital muscular dystrophies (CMD) with rigid spine syndrome, we have recently identified a new locus (RSMD1) on chromosome 1p35-36. In the present study, we report the clinical, morphological and genetic analysis of other patients affected by a CMD with rigid spine syndrome from nine consanguineous families. Homozygosity mapping showed that the disease was linked to RSMD1 in one of the nine families. The other families were excluded from RSMD1, and the patients presented highly variable phenotypes suggesting the involvement of more than one gene defect in rigid spine syndrome. Nevertheless, a subgroup of patients who never walked, and had very early rigidity of the spine and scoliosis, may be considered for further genetic analysis. INSERM U 523, Institut de myologie, Groupe Hospitalier Pitie-Salpetriere, Paris, France.
    • Pavone L, Gullotta F, La Rosa M and Grasso A (1983). Rigid spine syndrome. Some evidence of varying pathological patterns. Helv Paediatr Acta. 38 (4): 367-72. Summary: Rigid spine syndrome is a rare disorder supposed to be myopathic in origin, its major histologic abnormality being apparently a proliferation of connective tissue. A case of this syndrome observed in a 8-year-old girl with a progressive and rapidly fatal course is reported. Examination of nerve conduction velocity suggested a neurogenic rather than a myopathic impairment. Muscle biopsy disclosed nonspecific findings, such as fibre size variation, few streamings, but no proliferation of connective tissue. A review of the cases presented in the literature let us suppose that this syndrome is a complex clinical disorder probably secondary to varying pathological processes.
    • Seay AR, Ziter FA and Petajan JH (1977). Rigid spine syndrome. A type I fiber myopathy. Arch Neurol. 34 (2): 119-22. Summary: The rigid spine syndrome is an unusual disorder characterized by nonprogressive mild axial and proximal muscle weakness, flexion contractures of the neck and spine, scoliosis, and joint contractures. The biopsy specimen from the patient described in this report shows type I fiber hypotrophy and predominance. This contrasts with previous reports that describe connective tissue proliferation as the major histologic abnormality.
    • Tanaka K, Yoshimura T, Muratani H, Kira J, Itoyama Y and Goto I (1989). Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality. J Neurol. 236 (1): 52-4. Summary: A 37-year-old woman with scapulohumeral muscular atrophy, rigid spine and cardiopathy is reported. Muscle weakness, advanced atrioventricular block and contractures at the neck, elbows and ankles had occurred during her childhood. An autosomal dominant mode of inheritance was suggested because her mother, sister and brother had the same disorder. Pleomorphic mitochondria had accumulated in the subsarcolemmal space of the skeletal muscle. There was no evident enzyme defect in the mitochondrial electron transport system. Although the clinical features had some similarity with those of Emery-Dreifuss muscular dystrophy or rigid spine syndrome, the pattern of inheritance and the muscle pathology differed. Department of Neurology, Faculty of medicine, Kyushu University, Fukuoka, Japan.
    • Vanneste JA, Augustijn PB and Stam FC (1988). The rigid spine syndrome in two sisters. J Neurol Neurosurg Psychiatry. 51 (1): 131-5. Summary: Two half-sisters aged 14 and 18 years are described with a rigid spine syndrome as the cardinal clinical feature of an autosomal dominant neuromuscular disorder. Ten years previously, a diagnosis of multicore disease had been made from the clinical signs and muscle biopsy findings. Long term follow-up revealed a non-specific muscular dystrophy with axial predominance and a rigid spine in the younger girl; the older sister presented at the age of 18 with a rigid spine as the only myopathic sign. Computed tomography of the muscles showed severe involvement of the paraspinal musculature, in contrast with either less or no involvement of the other muscles. Department of Neurology, Sint Lukasziekenhuis, Amsterdam, The Netherlands.

    [This message was edited by Wise Young on Jul 31, 2002 at 04:10 PM.]

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