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
  FPLD
    1
    2 (Köbberling-Dunnigan): Lamin A/C; 1q22
    3: PPARG; 3p25
    4 : PLIN1 ; 15q26
    5 : CIDEC ; 3p35
    6 : LIPE (HSL) ; 19q13
    7: Caveolin-1
    8 : ADRA2A2
    9 : PLAAT3
  MDP: POLD1 ; 19q13
  FPLD: ZMPSTE24 ; 1p34
  SHORT : PIK3R1 ; 5q13
Myopathy + Lipodystrophy
  PTRF; 17q21
  PRAAS1: PSMB8; 6p21
Other
  CDG1a: PMM2
  Insulin-resistant diabetes + acanthosis nigricans: INSR; 19p13
  Flier's syndrome
  Keppen-Lubinsky: KCNJ6; 21q22
  Mandibuloacral dysplasia : LMNA; 1q22
  MFN2
  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)
Proteasome-Associated Autoinflammatory Syndrome 1 (PRAAS1) 7
  Proteasome subunit, Beta-type, 8 (PSMB8; LMP7) ; Chromosome 6p21.32; Recessive
Hemifacial Myohyperplasia (HMH; HFMH) 3
  Phosphatidylinositol 3-kinase, catalytic, α (PIK3CA) ; Chromosome 3q26.32; Somatic mutations
Muscle Hypertrophy Syndrome (MSLHP) 4
  Myostatin (GDF8; MSTN) ; Chromosome 2q32.2; Recessive
  • Epidemiology: 1 patient described
  • Genetics
    • Splice donor site in intron 1: g.IVS1+5 g→a
    • Homozygous
  • Myostatin protein
  • Onset
    • Age: Congenital
    • Myoclonus: Stimulus sensitive
    • Muscle hypertrophy
  • Clinical
    • Muscle
      • Hypertrophy
      • Strength: Increased
    • Heart: Normal
    • CNS: Myoclonus stopped after 2 months
  • Heterozygotes: ? Increased strength
  • Animal disorders
    • "Double-muscled" cattle
    • Myostatin deficient dog
 

Muscle Hypertrophy (Strongman) Syndrome, Myalgic 13
  DC-STAMP domain-containing protein 2 (DCST2) ; Chromosome 1q22; Dominant

Myositis Ossificans

FOP
Traumatic

Localized (Traumatic) myositis ossificans
Fibrodysplasia ossificans progressiva (FOP; Münchmeyer syndrome) 10
  Activin A receptor, type I (ACVR1/ALK2) ; Chromosome 2q23; Dominant or Sporadic
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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, J Exp Med 2023;220:e20230926
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
10. Orphanet J Rare Dis 2011;6:80
11. Am J Physiol Endocrinol Metab 2002;283:E154-164
12. Neuropathol Appl Neurobiol 2020 Mar 6
13. Neuromuscular Disorders 2014;24:875-876

11/9/2023