Spinal Muscular Atrophy Differential Diagnoses
- Author: Bryan Tsao, MD; Chief Editor: Amy Kao, MD more...
Katirji B, Kaminski HJ, Preston DC. Spinal muscular atrophies. In: Katirji B, Kaminski HJ, Preston DC, Ruff RL, Shapiro BE, eds. Neuromuscular Disorders in Clinical Practice. Boston: Butterworth-Heinemann; 2002:445-53.
Bradley WG, Daroff RB, Fenichel GM, Jankovic J, eds. Neurology in Clinical Practice. 2nd ed. Boston: Butterworth-Heinemann; 1996:1829-43.
Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. Apr 5 1990;344(6266):540-1. [Medline].
Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J Neurol Sci. Mar 1980;45(2-3):337-48. [Medline].
Burlet P, Burglen L, Clermont O, et al. Large scale deletions of the 5q13 region are specific to Werdnig- Hoffmann disease. J Med Genet. Apr 1996;33(4):281-3. [Medline].
Emery AE. The nosology of the spinal muscular atrophies. J Med Genet. Dec 1971;8(4):481-95. [Medline].
Pearn J. Classification of spinal muscular atrophies. Lancet. Apr 26 1980;1(8174):919-22. [Medline].
Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992;2(5-6):423-8. [Medline].
Burglen L, Lefebvre S, Clermont O, et al. Structure and organization of the human survival motor neurone (SMN) gene. Genomicx. 1996;32:479-482.
Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. Jun 21 2008;371(9630):2120-33. [Medline].
Harding AE. Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy. 3rd ed. Philadelphia: WB Saunders; 1993:1051-64.
Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. Jul 15 2002;110(4):301-7. [Medline].
Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J, Szirkowiec W. Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. J Med Genet. Dec 1984;21(6):447-50. [Medline].
Walton JN. The limp child. J Neurol Neurosurg Psychiatry. May 1957;20(2):144-54. [Medline].
Rudnik-Schoneborn S, Forkert R, Hahnen E, et al. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics. Feb 1996;27(1):8-15. [Medline].
Fenichel GM. Clinical Pediatric Neurology. 3rd ed. WB Saunders: Philadelphia; 1997:151-74.
Joynt R, Griggs R. Clinical Neurology. Vol 4. Philadelphia: Lippincott; 1997:11-5.
McShane MA, Boyd S, Harding B, et al. Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. Brain. Dec 1992;115 ( Pt 6):1889-900. [Medline].
Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology. Jul 1968;18(7):671-80. [Medline].
Kaeser HE. Scapuloperoneal muscular atrophy. Brain. Jun 1965;88(2):407-18. [Medline].
Kondo K, Tsubaki T, Sakamoto F. The Ryukyuan muscular atrophy. An obscure heritable neuromuscular disease found in the islands of southern Japan. J Neurol Sci. Oct 1970;11(4):359-82. [Medline].
Young ID, Harper PS. Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry. May 1980;43(5):413-08. [Medline].
Bertini E, Gadisseux JL, Palmieri G, et al. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Am J Med Genet. Jul 1989;33(3):328-35. [Medline].
Kamoshita S, Takei Y, Miyao M, Yanagisawa M, Kobayashi S, Saito K. Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease). Pediatr Pathol. 1990;10(1-2):133-42. [Medline].
Frugier T, Nicole S, Cifuentes-Diaz C, Melki J. The molecular bases of spinal muscular atrophy. Curr Opin Genet Dev. Jun 2002;12(3):294-8. [Medline].
Anderson K, Talbot K. Spinal muscular atrophies reveal motor neuron vulnerability to defects in ribonucleoprotein handling. Curr Opin Neurol. Oct 2003;16(5):595-9. [Medline].
Hausmanowa-Petrusewicz I, Vrbova G. Spinal muscular atrophy: a delayed development hypothesis. Neuroreport. May 12 2005;16(7):657-61. [Medline].
Roy N, Mahadevan MS, McLean M, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell. Jan 13 1995;80(1):167-78. [Medline].
Brahe C, Bertini E. Spinal muscular atrophies: recent insights and impact on molecular diagnosis. J Mol Med. Oct 1996;74(10):555-62. [Medline].
Hausmanowa-Petrusewicz I, Karwanska A. Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy. Muscle Nerve. Jan 1986;9(1):37-46. [Medline].
Krivickas LS. Electrodiagnosis in neuromuscular disease. Phys Med Rehabil Clin N Am. Feb 1998;9(1):83-114, vi. [Medline].
Buchthal F, Olsen PZ. Electromyography and muscle biopsy in infantile spinal muscular atrophy. Brain. 1970;93(1):15-30. [Medline].
Dubowitz V. Muscle disorders in childhood. Major Probl Clin Pediatr. 1978;16:iii-xiii, 1-282. [Medline].
Brichta L, Holker I, Haug K, Klockgether T, Wirth B. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol. Jun 2006;59(6):970-5. [Medline].
Weihl CC, Connolly AM, Pestronk A. Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. Neurology. Aug 8 2006;67(3):500-1. [Medline].
Fernandez-Rhodes LE, Kokkinis AD, White MJ, Watts CA, Auh S, Jeffries NO. Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. Lancet Neurol. Feb 2011;10(2):140-7. [Medline].
Armon C. ALS 1996 and Beyond: New Hopes and Challenges. A manual for patients, families and friends. 3rd ed. Loma Linda, Calif: 2000:18. [Full Text].
Birnkrant DJ, Pope JF, Martin JE, et al. Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding. Pediatr Neurol. May 1998;18(5):407-10. [Medline].
Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. May 1995;52(5):518-23. [Medline].
Manson JI, Thong YH. Immunological abnormalities in the syndrome of poliomyelitis-like illness associated with acute bronchial asthma (Hopkin's syndrome). Arch Dis Child. Jan 1980;55(1):26-32. [Medline].
de Leon GA, Grover WD, D'Cruz CA. Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy. Acta Neuropathol. 1984;63(4):282-6. [Medline].
Fidzianska A, Goebel HH, Warlo I. Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism. Brain. Apr 1990;113 ( Pt 2):433-45. [Medline].
Hausmanowa-Petrusewicz I. Spinal Muscular Atrophy: Infantile and Juvenile Type. Springfield, Va: National Library of Medicine;. 1978.
La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. Jul 4 1991;352(6330):77-9. [Medline].
MacLean HE, Choi WT, Rekaris G, Warne GL, Zajac JD. Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy). J Clin Endocrinol Metab. Feb 1995;80(2):508-16. [Medline].
Meister G, Eggert C, Fischer U. SMN-mediated assembly of RNPs: a complex story. Trends Cell Biol. Oct 2002;12(10):472-8. [Medline].
Norman RM. Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch Dis Child. Feb 1961;36:96-101. [Medline].

