A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker's muscular dystrophy for 20 years

Vesper Fe Marie Llaneza Ramos, Pariwat Thaisetthawatkul

Research output: Contribution to journalArticle

Abstract

A 60-year-old man diagnosed clinically with Becker's muscular dystrophy 20 years ago by another physician presented with gradually progressive proximal muscle weakness since teenage years. Family history revealed a strong paternal familial inheritance pattern of similar distribution of weakness-face, forearm flexion, knee extension and foot dorsiflexion. Work-ups revealed B12 deficiency and allele 1 deletion in fascioscapulohumeral muscular dystrophy (FSHD) DNA testing. FSHD is the third most common muscular dystrophy. Clinical diagnosis is made from the distinctive pattern of weakness, autosomal-dominant inheritance, and confirmed by genetic testing. This case strongly demonstrates the importance of a thorough and careful clinical evaluation even in a case with a long standing diagnosis.

Original languageEnglish (US)
Article numberafr095
Pages (from-to)273-274
Number of pages2
JournalAge and Ageing
Volume41
Issue number2
DOIs
StatePublished - Mar 1 2012

Fingerprint

Duchenne Muscular Dystrophy
Muscular Dystrophies
Diagnostic Errors
Inheritance Patterns
Muscle Weakness
Genetic Testing
Forearm
Foot
Knee
Alleles
Physicians
DNA

Keywords

  • Elderly
  • Familial weakness
  • Fasciscapulohumeral muscular dystrophy
  • Progressive weakness

ASJC Scopus subject areas

  • Aging
  • Geriatrics and Gerontology

Cite this

A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker's muscular dystrophy for 20 years. / Ramos, Vesper Fe Marie Llaneza; Thaisetthawatkul, Pariwat.

In: Age and Ageing, Vol. 41, No. 2, afr095, 01.03.2012, p. 273-274.

Research output: Contribution to journalArticle

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