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Scapuloperoneal Spinal Muscular Atrophy

SPSMA


Presentation

  • The pattern of expression was variable: the father showed a mild muscular involvement, while the son presented at birth skeletal dysplasia and a progressive course.[ncbi.nlm.nih.gov]
  • Acronym SPSMA Synonyms Amyotrophy neurogenic scapuloperoneal New England type Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • He has presented more than 450 papers and posters in National and International Congress (RSNA, ESGAR, ECR, ISR, AOCR, AINR, JRS, SIRM, AINR).[books.google.de]
  • Herein, we present two Polish SPSMA families harboring the same p.Arg269His mutation in TRPV4. In the first, the mutation was identified by direct Sanger sequencing of TRPV4 in the proband and then confirmed in other affected family members.[medworm.com]
Italian
  • We report the first Italian family with SPSMA, harboring the c.806G A mutation in TRPV4 gene (p. R269H).[ncbi.nlm.nih.gov]
  • Toscano Carmelo Rodolico CiteWeb id: 20160971416 CiteWeb score: 0 DOI: 10.1016/j.nmd.2016.02.010 Highlights• We report the first Italian family with TRPV4 related scapuloperoneal atrophy• Skeletal deformities could support the clinical suspicion• An early[citeweb.info]
  • He is member of the Italian Society of Radiology (SIRM), European Society of Radiology (ESR), Radiological Society of North America (RSNA), American Roentgen Ray Society (ARRS) and European Society of Neuroradiology (ESNR) and serves as Reviewer of more[books.google.de]
  • […] voor niet-wetenschappers Muscular Dystrophy Campaign Facts about Metabolic Diseases of Muscle - Muscular Dystrophy Muscular Dystrophies Muscular Dystrophy Ireland Muscular Dystrophy Assoc. of Canada Unione Italiana Lotta alla Distrofoa Muscolare [in Italian[catsclem.nl]
Heart Failure
  • A 14-year old boy was admitted for signs of heart failure and scapuloperoneal muscle weakness. He fulfilled the clinical, functional and diagnostic criteria for dilated cardiomyopathy.[ncbi.nlm.nih.gov]
  • failure. 5 X-linked recessive; autosomal recessive and autosomal dominant inheritance are also found, with less severe manifestations.Appendix Table 71 Metabolic myopathies (p. 340) ¶ Myopathy/Gene Locus Defect/Inheritance Features ¼ Slowly progressive[fliphtml5.com]
Torticollis
  • Symptoms of Scapuloperoneal spinal muscular atrophy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Spasmodic torticollis Weakness of face muscles Abnormality of limbs Clinodactyly Metatarsus adductus Peroneal[familydiagnosis.com]
  • DISORDERS Zie ook: PERONEAL MUSCULAR ATROPHY Zie ook: ZIEKTE van POMPE POMPE's DISEASE ACID MALTASE DEFICIENY AMD Zie ook: POSTPOLIO Zie ook: REFLEX SYMPATHETIC DYSTROPHY Zie ook: RHABDOMYOLYSIS Zie ook: SCAPULOPERONEAL DYSTROPHY Zie ook: SCHEEFHALS TORTICOLLIS[catsclem.nl]
  • Tonotopicity 100, 101 spinal cord 274–275 symptoms and signs 232, Top of the basilar syndrome acute stage (spinal shock) 70, 359 274 233 Topiramate 198 chronic stage–late treatment 232 Torcular Herophili 18 sequelae 274 Tuberous sclerosis (TSC) 294, Torticollis[fliphtml5.com]
Small Hand
  • hand Talipes equinovarus Abnormality of the musculature ... ...[familydiagnosis.com]
  • Clinical hallmarks of SPSMA are muscular atrophy of the shoulders, peroneal and small hand muscles resulting in distal weakness, predominantly of the lower limbs, and pectoral muscle wasting and weakness.[orpha.net]
Small Hand
  • hand Talipes equinovarus Abnormality of the musculature ... ...[familydiagnosis.com]
  • Clinical hallmarks of SPSMA are muscular atrophy of the shoulders, peroneal and small hand muscles resulting in distal weakness, predominantly of the lower limbs, and pectoral muscle wasting and weakness.[orpha.net]
Winged Scapula
  • Patients present difficulty walking on heels, winged scapulae, and diminished or absent deep tendon reflexes. Other common features reported include vocal cord paralysis, scoliosis, and/or arthrogryposis.[orpha.net]
Areflexia
  • Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness.[amboss.com]
  • Hypotonia and weakness are usually noted in the newborn period and can be associated with congenital joint contractures and areflexia.[ncbi.nlm.nih.gov]
  • IgG antibodies directed against GM1, GD1a, GD1bMiller Fisher syndrome (MFS) Diplopia (usually external ophthalmoplegia), ataxia, areflexia. IgG antibodies to GQ1b5 (Hahn, 1998)1 The most common manifestations are listed.[fliphtml5.com]
Hyporeflexia
  • Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness.[amboss.com]
  • Atten- receptor tuated muscles, skeletal anomalies2, hyporeflexia Nemaline myopathy AD: 1q22–23/Tropomyosin-3 or areflexia; exercise-induced muscle stiffness; (NEM1) AR3/2q22/Nebulin risk of malignant hyperthermia Nemaline myopathy Neonatal hypotonia;[fliphtml5.com]
Facial Muscle Weakness
  • Respiratory otubular) myopathy disturbances (paretic diaphragm muscles), recur- rent pneumonia, dysphagia, dysarthria; hy- poreflexia or areflexia Neonatal hypotonia, facial muscle weakness, ex- ternal ophthalmoplegia, hyporeflexia, respiratory disturbances[fliphtml5.com]

Treatment

  • Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders.[books.google.de]
  • Twelve potentially clinically meaningful treatment benefit...[medworm.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Treatment - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied. Resources - Amyotrophy- neurogenic scapuloperoneal- New England type[checkorphan.org]

Prognosis

  • Prognosis - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied. Treatment - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied. Resources - Amyotrophy- neurogenic scapuloperoneal- New England type[checkorphan.org]
  • Prognosis The prognosis is not so poor, even if the problems of ambulation predispose to falls, to the development of arthrosic problems, which together with the dysmorphic aspects and the distal weakness contribute to get worse the motor problems.[orpha.net]
  • Prognosis Progressive muscle weakness usually leads to death by age four for persons with SMA I. Muscle weakness progresses at varying rates in SMA II, and many persons survive into adulthood.[encyclopedia.com]
  • The older the age of onset, the better the prognosis![amboss.com]
  • Prognosis The prognosis for these patients is variable and depends on the underlying cause.[childneurologyfoundation.org]

Etiology

  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)![amboss.com]
  • Etiology unknown. Inheritance is either autosomal dominant or X-linked. It is clinically indistinguishable from Kugelberg-Welander (recessive). First described in 1886 by Brossard. Presented as a nosological entity in 1964 by Kaeser.[whonamedit.com]
  • Etiology The causative gene of SPSMA is TRPV4 (12q23-q24.1), which encodes for a calcium, nonselective cation channel thought to be involved in the regulation of systemic osmotic pressure and mechanosensitivity.[orpha.net]
  • Arthrogryposis multiplex congenita is etiologically heterogeneous: underlying etiologies can include central nervous system causes, neurogenic effects, fetal constraint, and intrauterine vascular disruption (e.g., amyoplasia).[ncbi.nlm.nih.gov]

Epidemiology

  • Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • Summary Epidemiology The precise prevalence of Scapuloperoneal spinal muscular atrophy (SPSMA) is not available. To date, more than 30 affected individuals have been described worldwide. Males are more severely affected than females.[orpha.net]
  • This genomic organization provides a therapeutic pathway to promote SMN2, existing in all patients, to function like the missing SMN1 gene. [10] Epidemiology Frequency United States The spinal muscular atrophies are the second most common autosomal-recessive[emedicine.medscape.com]
  • […] voor Kinderen SOCIALE FOBIE SOCIAL PHOBIA Zie ook: FOBIEËN PHOBIAS Zie ook: VERLEGENHEID SHYNESS Sociale Fobie Diagnosis of Social Phobia (Social Anxiety Disorder) A good reference site Social Phobia/Social Anxiety Organization Social Phobia Genetic Epidemiology[catsclem.nl]
Sex distribution
Age distribution

Pathophysiology

  • Understanding the molecular mechanism of TRPV4-linked axonal degeneration may provide a pathophysiological basis for design of rational therapies for SPSMA and CMT2C, with possible implications in other neurological diseases.[grantome.com]
  • Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)![amboss.com]
  • Pathophysiology In 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron ( SMN ), was discovered. [9] Each individual has 2 SMN genes, SMN1 and SMN2.[emedicine.medscape.com]

Prevention

  • An early diagnosis of SPSMA may be crucial in order to prevent the more severe congenital form.[ncbi.nlm.nih.gov]
  • CiteWeb id: 20160971416 CiteWeb score: 0 DOI: 10.1016/j.nmd.2016.02.010 Highlights• We report the first Italian family with TRPV4 related scapuloperoneal atrophy• Skeletal deformities could support the clinical suspicion• An early diagnosis is crucial to prevent[citeweb.info]
  • Symptoms - Amyotrophy- neurogenic scapuloperoneal- New England type Causes - Amyotrophy- neurogenic scapuloperoneal- New England type Prevention - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied.[checkorphan.org]
  • Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice.[books.google.de]

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