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Peroneal muscle atrophy

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Peroneal atrophy
HPO: HP:0009049


Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). [from HPO]

Term Hierarchy

Conditions with this feature

Benign scapuloperoneal muscular dystrophy with cardiomyopathy
MedGen UID:
Concept ID:
Disease or Syndrome
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.
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.
Charlevoix-Saguenay spastic ataxia
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is clinically characterized by a progressive cerebellar ataxia, peripheral neuropathy, and spasticity. Disease onset of classic ARSACS is often in early childhood, leading to delayed walking because of gait unsteadiness in very young toddlers, while an increasing number of individuals with disease onset in teenage or early-adult years are now being described. Typically the ataxia is followed by lower-limb spasticity and later by peripheral neuropathy – although pronounced peripheral neuropathy has been observed as a first sign of ARSACS. Oculomotor disturbances, dysarthria, and upper-limb ataxia develop with slower progression than the other findings. Brain imaging demonstrates atrophy of the superior vermis and the cerebellar hemisphere with additional findings on MRI, such as linear hypointensities in the pons and hyperintense rims around the thalami. Many affected individuals (though not all) have yellow streaks of hypermyelinated fibers radiating from the edges of the optic disc noted on ophthalmologic exam, and thickened retinal fibers can be demonstrated by optical coherence tomography. Mild intellectual disability, hearing loss, and urinary urgency and incontinence have been reported in some individuals.
Charcot-Marie-Tooth disease with ptosis and parkinsonism
MedGen UID:
Concept ID:
Disease or Syndrome
Neurogenic scapuloperoneal syndrome, Kaeser type
MedGen UID:
Concept ID:
Disease or Syndrome
A rare genetic neuromuscular disease with characteristics of adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynaecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. Caused by heterozygous mutation in the DES gene on chromosome 2q35.
Neuronopathy, distal hereditary motor, type 5B
MedGen UID:
Concept ID:
Disease or Syndrome
Distal hereditary motor neuronopathy type VB is an autosomal dominant neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by Beetz et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; 182960).

Professional guidelines


Pietsch M, Hofmann S, Wenisch C
Oper Orthop Traumatol 2006 Mar;18(1):66-87. doi: 10.1007/s00064-006-1163-5. PMID: 16534562
Milanov I, Ishpekova B
Electromyogr Clin Neurophysiol 1997 Mar;37(2):73-8. PMID: 9098670
Mauritz KH, Dietz V, Haller M
J Neurol Neurosurg Psychiatry 1980 May;43(5):407-12. doi: 10.1136/jnnp.43.5.407. PMID: 7420091Free PMC Article

Recent clinical studies


Palmucci L, Mongini T, Doriguzzi C, Maniscalco M, Schiffer D
J Neurol Neurosurg Psychiatry 1991 Jan;54(1):42-5. doi: 10.1136/jnnp.54.1.42. PMID: 2010758Free PMC Article


Madej-Pilarczyk A, Kochański A
Folia Neuropathol 2016;54(1):1-8. doi: 10.5114/fn.2016.58910. PMID: 27179216


Palmucci L, Mongini T, Doriguzzi C, Maniscalco M, Schiffer D
J Neurol Neurosurg Psychiatry 1991 Jan;54(1):42-5. doi: 10.1136/jnnp.54.1.42. PMID: 2010758Free PMC Article

Clinical prediction guides

Palmucci L, Mongini T, Doriguzzi C, Maniscalco M, Schiffer D
J Neurol Neurosurg Psychiatry 1991 Jan;54(1):42-5. doi: 10.1136/jnnp.54.1.42. PMID: 2010758Free PMC Article

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