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Scapuloperoneal amyotrophy

MedGen UID:
Concept ID:
Synonym: Scapuloperoneal atrophy
HPO: HP:0003697


Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVScapuloperoneal amyotrophy

Conditions with this feature

Scapuloperoneal spinal muscular atrophy
MedGen UID:
Concept ID:
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Myosin storage myopathy
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal dominant myosin storage congenital myopathy-7A (CMYP7A) is a skeletal muscle disorder with wide phenotypic variability. The age at symptom onset can range from early childhood to late adulthood. Affected individuals have proximal muscle weakness affecting the upper and lower limbs and distal muscle weakness of the lower limbs, resulting in gait difficulties and scapular winging (scapuloperoneal myopathy). Additional features may include thin habitus, high-arched palate, foot drop, pes cavus, calf pseudohypertrophy, and decreased reflexes. The severity is also variable: some patients develop respiratory insufficiency, joint contractures, and scoliosis in the first decades, whereas others are clinically unaffected, but show subtle signs of the disorder on examination. Serum creatine kinase may be normal or elevated. The disease is usually slowly progressive and most patients remain ambulatory. Skeletal muscle biopsy can show different abnormalities, including hyaline bodies, type 1 fiber predominance, congenital fiber-type disproportion (CFTD), and nonspecific myopathic changes with myofibrillar disarray. Intrafamilial variability is common (Dye et al., 2006; Pegoraro et al., 2007; review by Tajsharghi and Oldfors, 2013). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Myopathy, myosin storage, autosomal recessive
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal recessive myosin storage congenital myopathy-7B (CMYP7B) is a skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable, even within families. Most patients develop respiratory insufficiency, nocturnal hypoventilation, and restrictive lung disease; some develop hypertrophic cardiomyopathy. Additional features include myopathic facies, high-arched palate, scoliosis, and muscle wasting with thin body habitus. Serum creatine kinase may be normal or elevated. Skeletal muscle biopsy shows variable findings, including myosin storage disease, type 1 fiber predominance, centralized nuclei, and multiminicore disease (Onengut et al., 2004; Tajsharghi et al., 2007; Beecroft et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Autosomal recessive lower motor neuron disease with childhood onset
MedGen UID:
Concept ID:
Disease or Syndrome
A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36.

Professional guidelines


Milanov I, Ishpekova B
Electromyogr Clin Neurophysiol 1997 Mar;37(2):73-8. PMID: 9098670

Recent clinical studies


Kazakov VM, Bogorodinsky DK, Skorometz AA
Eur Neurol 1975;13(4):350-9. doi: 10.1159/000114689. PMID: 1149755


Kazakov V
Neuromuscul Disord 2003 Jan;13(1):91-2. doi: 10.1016/s0960-8966(02)00189-x. PMID: 12467738
Spalke G, Hökendorf H, von Roques P
J Neurol 1976 Jun 14;212(3):253-69. doi: 10.1007/BF00314527. PMID: 58977


Kazakov VM, Bogorodinsky DK, Skorometz AA
Eur Neurol 1975;13(4):350-9. doi: 10.1159/000114689. PMID: 1149755

Clinical prediction guides

Ronen GM, Lowry N, Wedge JH, Sarnat HB, Hill A
Can J Neurol Sci 1986 Aug;13(3):264-6. doi: 10.1017/s0317167100036404. PMID: 3742344
Kazakov VM, Bogorodinsky DK, Skorometz AA
Eur Neurol 1975;13(4):350-9. doi: 10.1159/000114689. PMID: 1149755

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