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Spinal Muscular Atrophy Type 4

SMA


Presentation

  • -Also known as Werdnig-Hoffmann Disease -Weakness present at birth or prior to 4 months of age -Cranial nerve involvement may or may not be seen -Respiratory problems often with accessory muscles present for breathing -Do not transition away from belly[quizlet.com]
  • Severity of SMA is related to the number of SMN2 copies present. SMA type 1 patients usually have 2 copies of SMN2 , while type IV patients usually have 3-4 copies. Inheritance : Autosomal recessive.[genetics4medics.com]
  • The initial presentation of symptoms appears very similar to ALS, and I suspect that because the condition involves loss of motor neurons the EMG of a person presenting with SMA would be very hard to distinguish from one with ALS (Wright, please correct[alsforums.com]
  • Type I spinal muscular atrophy (Werdnig-Hoffmann disease) is present in utero and becomes symptomatic by about age 6 mo.[merckmanuals.com]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
Collapse
  • The investigation results were: WBC: 13.9; HB:11; PLT: 445; creatinine: 21; Na:142; K: 3.5, blood culture was staphylococcus epidermidis, and the chest x-ray showed right upper lobe collapse, then left lung collapse and both resolved.[raredisorders.imedpub.com]
  • […] secretion are affected before 1 year of age Atrophy and fasciculation of the tongue Weakness and hypotonia in the limbs and trunk Intercostal muscle weakness (note, the diaphragm is initially spared) Paradoxical breathing Bell-shaped trunk with chest wall collapse[togetherinsma-hcp.com]
Decreased Breath Sounds
  • At this time she looked alert, having sever ehypotonia, frog like position, seesaw breathing, with decreased breath sounds on the right side of the chest. The case was admitted to PICU and connected to mechanical ventilation.[raredisorders.imedpub.com]
Fasciculation of the Tongue
  • […] of the tongue Weakness and hypotonia in the limbs and trunk Intercostal muscle weakness (note, the diaphragm is initially spared) Paradoxical breathing Bell-shaped trunk with chest wall collapse and abdominal protrusion To learn how different aspects[togetherinsma-hcp.com]
Drooling
  • Constipation is a common problem as is being able to control excessive drooling (secretions), and getting proper nutrition and calories for proper weight gain.[smasupport.com]
Muscle Twitch
  • twitching first noted in late teens or adulthood To learn how different aspects of care may relate to the signs and symptoms of SMA, click here.[togetherinsma-hcp.com]
  • The initial symptoms of Kennedy’s syndrome may include tremor (shaking) of the hands, muscle cramps on exertion, muscle twitches and weakness of the muscles of the limbs.[your.md]
Onset in Adolescence
  • LATE ADOLESCENCE/ ADULTHOOD (adult-onset) LATE ADOLESCENCE/ADULTHOOD (adult-onset) 1,2,4 Highest motor milestone achieved ALL Life expectancy (untreated SMA) NORMAL Clinical characteristics Physical symptoms are similar to late-onset SMA, with the gradual[togetherinsma-hcp.com]
Hand Tremor
  • Muscle cramps, facial fasciculations, hand tremor. Associated with type 2 diabetes and infertility.[patient.info]
  • Type 2 diabetes mellitus, hand tremor, and infertility can also occur. Bulbar involvement predisposes the person with spinal muscular atrophy to recurrent aspiration pneumonia, due to weakening of the muscles necessary for efficient swallowing.[encyclopedia.com]
  • Increased rates of type 2 diabetes, infertility, and hand tremor are associated with Kennedy disease. This condition results from a triple repeat mutation (cytosine-adenine-guanine [CAG]) in exon 1 of the androgen receptor gene on the X chromosome.[emedicine.medscape.com]
Mydriasis
  • […] spinal mydriasis spinal mydriasis spinal myelitis spinal myelitis spinal myelopathy spinal myelopathy spinal n spinal n spinal n spinal n spinal needle Spinal nereves Spinal nereves Spinal nereves spinal nerve spinal nerve spinal nerve spinal nerve Spinal[medical-dictionary.thefreedictionary.com]
Cerebellar Disease
  • Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.de]

Workup

Excessive Drooling
  • Constipation is a common problem as is being able to control excessive drooling (secretions), and getting proper nutrition and calories for proper weight gain.[smasupport.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment options focus on addressing the muscle weakness and can include physical therapy. If you or your child has been diagnosed with SMA4, talk with a doctor about all treatment options.[diseaseinfosearch.org]
  • Treatment is supportive. Spinal muscular atrophies usually result from autosomal recessive mutations of a single gene locus on the short arm of chromosome 5, causing a homozygous deletion.[merckmanuals.com]
  • Over the past 9 months of treatment I have retained my health and still go running, cycling etc.[alsforums.com]

Prognosis

  • Prognosis SMA4 is the mildest form of SMA and in general the disease course is benign with patients having a normal life expectancy. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • prognosis of these patients 7,8.[radiopaedia.org]
  • 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]

Etiology

  • Etiology As for the other forms of SMA, SMA4 has been associated with deletions in the SMN1 gene (5q12.2-q13.3) encoding the SMN (survival motor neuron) protein.[orpha.net]
  • 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]

Epidemiology

  • Summary Epidemiology Prevalence is estimated at around 1/300,000. Clinical description SMA4 usually manifests in the second or third decade of life.[orpha.net]
  • Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • […] lymphohistiocytosis Synonym(s): - Juvenile spinal muscular atrophy - Kugelberg-Welander disease - SMA type 3 - SMA-III - SMA3 Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • Shawky RM, El-Sayed NS (2011) Clinico-epidemiologic characteristics of spinal muscular atrophy among Egyptians. Egyptian Journal of Medical Human Genetics 12:25-30.[raredisorders.imedpub.com]
Sex distribution
Age distribution

Pathophysiology

  • 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 Spinal muscular atrophy (SMA) types I-III Inheritance is autosomal recessive. Affected individuals have two copies of the altered gene. Those who carry one copy are usually unaffected carriers.[patient.info]
  • 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]
  • (See Pathophysiology.) Two copies of the SMN gene have been identified on the 5q arm: a telomeric SMN gene ( SMNt, or SMN1 ) and a centromeric SMN gene ( SMNc, or SMN2 ).[emedicine.medscape.com]

Prevention

  • Two major decisions must be made with Type I children...whether or not to insert a feeding tube to prevent pneumonia and prevent starvation when they have lost their ability to suck or swallow; and whether or not to put them on a ventilator or other breathing[smasupport.com]
  • Physical therapy, braces, and special appliances can benefit patients with static or slowly progressive disease by preventing scoliosis and contractures.[merckmanuals.com]
  • Orthopedic surgical interventions such as tendon transfer or spinal surgery can prevent disability in patients with expected prolonged survival.[encyclopedia.com]
  • Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections.[livingnaturally.com]
  • Supportive therapy is aimed at preventing respiratory and orthopedic complications. Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]

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