Electromyographic findings in 37 patients with adult-onset acid maltase deficiency

Muscle and Nerve

Volumn 51, Issue 5, 2015, Pages 759-761

  Kassardjian, Charles D ^a   Engel, Andrew G ^a   Sorenson, Eric J ^a  

^a MAYO CLINIC   (United States)

Author keywords

Acid maltase deficiency; EMG; Myotonia; Myotonic discharge; Pompe disease

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ACID MALTASE DEFICIENCY; ADULT; ARM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARPAL TUNNEL SYNDROME; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CUBITAL TUNNEL SYNDROME; DIAPHRAGM MUSCLE; DISEASE SEVERITY; ELECTRICAL MYOTONIA; ELECTROMYOGRAPHY; ENZYME DEFICIENCY; FEMALE; HUMAN; LEG MUSCLE; LIMB WEAKNESS; MALE; MOTOR UNIT POTENTIAL; MUSCLE DISEASE; MUSCLE WEAKNESS; MYOTONIA; NERVE POTENTIAL; ONSET AGE; PARASPINAL MUSCLE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TENSOR FASCIA LATA MUSCLE; ADOLESCENT; COMPLICATION; DIAPHRAGM; GLYCOGEN STORAGE DISEASE TYPE II; INCIDENCE; MIDDLE AGED; PATHOPHYSIOLOGY; SKELETAL MUSCLE; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; DIAPHRAGM; ELECTROMYOGRAPHY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MYOTONIA; PARASPINAL MUSCLES; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84928208780     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24620     Document Type: Article

References (11)

1. Laforêt P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, et al. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2000;55:1122-1128.
2. Engel AG, Seybold ME, Lambert EH, Gomez MR. Acid maltase deficiency: comparison of infantile, childhood, and adult types. Neurology 1970;20:382.
3. Barohn RJ, McVey AL, DiMauro S. Adult acid maltase deficiency. Muscle Nerve 1993;16:672-676.
4. Salem B, Thaisetthawatkul P, Fernandes JA, McComb RD. Adult-onset acid maltase deficiency with isolated axial muscle involvement. J Clin Neuromuscul Dis 2010;12:30-35.
5. Engel AG. Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 1970;93:599-616.
6. Logigian EL, Ciafaloni E, Quinn LC, Dilek N, Pandya S, Moxley RT III, et al. Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy. Muscle Nerve 2007;35:479-485.
7. Young NP, Daube JR, Sorenson EJ, Milone M. Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2. Muscle Nerve 2010;41:758-762.
8. Read K, Hutchinson D, Veale A, Anderson N, Hammond-Tooke G, Macfie A. Acid maltase deficiency: clinical and laboratory features of adult-onset cases. N Z Med J 2001;114:406-409.
9. Beltran Papsdorf TB, Howard JF Jr, Chahin N. Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency. Neurology 2014;82:e73-e75.
10. Engel AG, Gomez MR, Seybold ME, Lambert EH. The spectrum and diagnosis of acid maltase deficiency. Neurology 1973;23:95-106.
11. Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007;17:698-706.