Neuromuscular

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LARGE OR PROMINENT MUSCLES

Drugs
Endocrinopathy
Focal enlargement
Infections
Lipodystrophy
Macroglossia
Inherited
  Hypertrophy
  Muscular dystrophy
  Myotonia
  Storage disorders
Overusage
Partial denervation
Pathology
Short stature

Amyloidosis:
Enlarged tongue


Overusage Partial Denervation Endocrinopathy Muscular Dystrophies & Myopathies Infections Drug treatment Storage & replacement Focal enlargement Skeletal Disorders: Short stature, etc. Lipodystrophy syndromes 1

MUSCLE & MUSCLE FIBER HYPERTROPHY: Pathology



Beckwith-Wiedemann syndrome
  Cyclin-dependent kinase inhibitor 1C ; Chromosome 11p15.4
  Duplication of chromosome 11p15.5; Dominant with incomplete penetrance
  Influenced by genomic imprinting and uniparental disomy

Myhre Syndrome 8
  Mothers against decapentaplegic, drosophila, homolog of, 4 (SMAD4) ; Chromosome 18q21.2; Dominant

Lipodystrophy: Hereditary

Congenital (Berardinelli-Seip)
  CGL1: AGPAT2
  CGL2: BSCL2
  CGL3: Caveolin-1
  CGL4: Cavin
Partial
  Barraquer-Simons (Acquired): LMNB2; 19p13
  FPLD1
  FPLD2 (Köbberling-Dunnigan): Lamin A/C; 1q22
  FPLD3: PPARG; 3p25
  FPLD4 : PLIN1 ; 15q26
  FPLD5 : CIDEC ; 3p35
  MDP: POLD1 ; 19q13
  FPLD: ZMPSTE24 ; 1p34
  SHORT : PIK3R1 ; 5q13
Myopathy + Lipodystrophy
  PTRF; 17q21
  PSMB8: 6p21
Insulin-resistant diabetes + acanthosis nigricans: INSR; 19p13
Flier's syndrome
Mandibuloacral dysplasia : LMNA; 1q22
Spastic ataxia & cataracts

Also see
  Large muscles
  Lipodystrophy Syndromes


Insulin-resistant diabetes mellitus with acanthosis nigricans (Flier's syndrome )
  Insulin receptor (INSR) ; Chromosome 19p13.2; Dominant

Familial partial lipodystrophy: Köbberling-Dunnigan Syndrome (FPLD2) 6
  Lamin A/C ; Chromosome 1q22; Dominant

Acquired partial lipodystrophy (Barraquer-Simons syndrome) 5
  Lamin B2 (LMNB2) Chromosome 19p13.3; Often sporadic

Berardinelli-Seip Congenital Lipodystrophy Syndrome
  CGL1 : 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2) ; Chromosome 9q34.3; Recessive
  CGL2 : BSCL2 ; Chromosome 11q12.3; Recessive
  CGL3 : Caveolin-1 (CAV1) ; Chromosome 7q31.2; Recessive

Mandibular hypoplasia, Deafness and Progeria (MDP) syndrome 9
  Polymerase (DNA-directed), Delta 1, Catalytic subunit (POLD1) ; Chromosome 19q13.33; Dominant (Sporadic)

JMP syndrome 7
  Proteasome subunit, Beta-type, 8 (PSMB8; LMP7) ; Chromosome 6p21.32; Recessive

Hemifacial Myohyperplasia (HMH) 3
  Recessive or Sporadic

Muscle hypertrophy syndrome 4
  Myostatin (GDF 8) ; Chromosome 2q32.2; Recessive

Muscle hypertrophy (Strongman) syndrome, Myalgic
  DC-STAMP domain-containing protein 2 (DCST2) ; Chromosome 1q22; Dominant
Return to Myopathy & NMJ Index
Return to Neuromuscular Home Page

References
1. Am J Med 2000;108:143-152
2. Am J Med Genet 2001;Online July 24
3. Am J Med Genet 2001;103:326-333
4. N Engl J Med 2004;350:2682-2688
5. Am J Hum Genet 2006; August
6. Neurology 2007;68:677-683
7. Am J Human Genet 2010; Online December
8. Nature Genet 2011; Online Dec
9. Nature Genetics 2013; Online June

2/25/2014