Neuromuscular

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MYOPATHIES & NEURONOPATHIES
  WITH NO EOM WEAKNESS ± FACE & PERIOCULAR INVOLVEMENT

Myotonic Dystrophy
Facioscapulohumeral dystrophy
Scapuloperoneal syndromes
Other myopathies

FSH dystrophy: Asymmetric triangular shoulders



MYOTONIC DYSTROPHY

Genetic loci
Differential diagnosis: DM1 vs DM2

Myotonic dystrophy 1 (DM 1)
  Clinical features
  Disease mechanisms
  Epidemiology
  Genetic testing
  Laboratory features
  Myotonin protein kinase (DMPK)
    Gene
    Protein
  Pathology

DM 2 (PROMM)
  Pathology

Also see: Gene Reviews

Myotonic dystrophy: 1st picture
Weakness of face & sternomastoids

Myotonic Dystrophy: General



Myotonic Dystrophy 1 (DM1)

  Myotonin protein kinase (DMPK) ; Chromosome 19q13.32; Dominant
Clinical features
  Comparison to DM2
  Congenital
  General
  Onset
  Myotonia
  Neural
  Prognosis
  Systemic
  Weakness
Disease mechanisms
Epidemiology
Genetic testing
Laboratory features
Myotonin protein kinase (DMPK)
  Genetic & Molecular
    CTG repeats
    Disease mechanisms
    Generation effects: Anticipation
  Protein

Also see: Gene Reviews
DM1 Gene Locus

5'
DM1 gene locus
3'

From: Neil Miller, Johns Hopkins
Christmas Tree Cataracts




Myotonic Dystrophy, Type 3 (DM3)16
  Identified as IBMPFD



FACIOSCAPULOHUMERAL (FSH) DYSTROPHY

FSH 1A: D4Z4 deletion; 4q35
  Clinical features
  Clinical correlations
  DUX4 protein
  Epidemiology
  Genetics
  Laboratory
  FSH Variants
    Infantile FSH 1A
    FSHD1
    Bent spine
FSHD2: SMCHD1; 18p11
FSHD: D4Z4 deletion; 10qter

FSH Differential Dx
  non 4q35 FSH
    FSH 1B
    Mitochondrial
    Scapuloperoneal
    VCP

External link
  U Wash

FSH Dystrophy
  



NLM
Louis Théophile Joseph Landouzy

NLM
Joseph Jules Dejerine

FACIOSCAPULOHUMERAL (FSH) DYSTROPHY 1A (FSHMD 1A)

  Double homeobox protein 4 (DUX4) (D4Z4 repeat DNA deletion); Chromosome 4q35.2; Dominant
  Double homeobox protein 4 (DUX4) (D4Z4 repeat DNA deletion); Chromosome 10qter; Dominant

FSH mechanisms
Transcriptional misregulation of neighboring genes8

  FSHMD1B: Autosomal Dominant

SCAPULOPERONEAL SYNDROMES: Without 4q35 linkage, ± Facial weakness

Centronuclear myopathy (Adult-onset): MYF6; 12q21; Dominant
Davidenkow's syndrome
Emery-Dreifuss Dystrophies
FSHD with ragged red fibers & cardiomyopathy
Glycogen storage
  Acid maltase deficiency with scapuloperoneal weakness
  Phosphorylase deficiency (McArdles)
Kaeser: Desmin; 2q35
LGMD2A: Calpain 3; 15q15
Mitochondrial
Myopathy + Paget's disease of bone
  with Dementia: VCP; 9p13
  Type 2
Reducing body myopathy (Adult onset): FHL1; Xq26
Retardation & Cardiomyopathy: LAMP-2; Xq24
Scapuloperoneal MD (SPMD) with Hyaline bodies
  Type 1: FHL1; Xq26; Dominant
  Type 2: MYH7; 14q12; Dominant
  Type 3: ? 3p22; Recessive
  Myosin storage myopathy: MYH7; 14q12
Scapuloperoneal neuronopathy: TRPV4; 12q24

Also see: Absent muscles; Holt-Oram; FSH


FHL1 mutations: Common features
Scapular winging
Joint contractures
Rigid spine
Respiratory weakness
Cardiomyopathy
Reducing bodies
FHL1 levels: Reduced
  Except: Reducing body myopathy
Other myopathies
Facioscapulohumeral muscular dystrophy gene testing

University of Iowa Hospitals & Clinics
200 Hawkins Drive
Microbiology Laboratory
BT 6004 GH
Iowa City, Iowa 52242-1009
319-356-2591
Fax: 319-384-9854

10 ml Lavender top (EDTA) tube

Return to Limb-Girdle dystrophies
Return to Myopathy & NMJ Index

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6/29/2014