Severe muscle disease, wheelchair dependency, and kyphoscoliosis appeared to be risk factors for respiratory failure in FSHD. Neurological Rehabilitation | Johns Hopkins Medicine DM2 is caused by a mutation in the CNBP (ZNF9) gene. CMT X is an X-linked dominant, primarily demyelinating neuropathy with a mutation in the connexin 32 gene (CX32), which codes for a membrane protein (gap junction protein, beta 1) involved in the formation of gap junctions. People with restrictive lung disease develop weak bellowsthat is, their breathing muscles (diaphragm, chest wall, and abdominal muscles) are weak. Still, it also addresses a variety of other conditions, such as: Several prognostic predictors exist for determining the course of ALS. The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy. Han JJ, Carter GT, Ra JJ, Abresch RT, Chamberlain JS, Robinson LR. Autosomal forms are due to mutations in genes encoding for lamins A and C and are usually dominant. Cambridge W, Drennan JC. Treating pediatric neuromuscular disorders: The future is now. Science. These promising results suggest that replacing even small amounts of myotubularin protein may improve muscle function weakness and reverse pathology. Majmudar S, Wu J, Paganoni S. Rehabilitation in amyotrophic lateral sclerosis: why it matters. Survival rates vary, depending on the patients decision to use a feeding tube and assisted ventilation. BMC Med Genet. [QxMD MEDLINE Link]. [17, 18, 19, 20] This leads to an abnormally expanded messenger RNA, which ultimately formstoxic intracellular clumps that interfere with the production of other critical proteins. In the NMD population, a higher level of education correlated more closely with employment rate than with functional level or physical performance. What is Neuromuscular Therapy? [QxMD MEDLINE Link]. Submaximal, low-impact aerobic exercise (walking, swimming, stationary bicycling) improves symptoms of fatigue by enhancing cardiovascular performance and increasing utilization of oxygen and substrate by muscle. At the core of our movements are muscles themselves. [QxMD MEDLINE Link]. Bckman E, Nylander E. The heart in Duchenne muscular dystrophy: a non-invasive longitudinal study. Benatar M, Kurent J, Moore DH. Many technological inventions have been enhancing physiotherapeutic treatment. Enrollment in an experimental protocol should be encouraged and facilitated, furthering science and providing some hope for the patient. 2006 Sep. 14(3):401-7. Other drugs aimed at limiting free radical damage due to oxidative stress are in development, with mechanisms that include blocking pathogenic and proinflammatory stimuli. Neuromuscular diseases affect the function of muscles due to problems with the nerves and muscles in your body. In addition, TIRR Memorial Hermann is one of the few organizations that have clinicians trained in the Lee Silverman Voice Treatment (LSVT-LOUD) an innovative and effective technique for improving voice volume by retraining patients on the level of effort needed to produce sound and LSVT-BIG, an intensive whole body amplitude-based training protocol for people with Parkinsons Disease. Neuromuscular Re-education in Orthopaedic Physical Therapy Expression and localization of dystrophin in human cardiac Purkinje fibers. Nerve compression can occur in the absence of true entrapment. End-tidal carbon dioxide levels or arterial blood gases should be periodically measured, depending on the clinical circumstances. Neuromuscular diseases affect the function of muscles due to problems with the nerves and muscles in your body. 1998 Dec. 79(12):1560-4. It is a treatment for myofascial trigger points, which are small contractions in muscle fibers that cause pain, weakness and discomfort in a referred area. Reports have described genetically confirmed DM2 that has not revealed myotonia on EMG. The discovery of the GAA gene led to the development of a ERT. [65, 66] Pompe disease results from mutations in a gene for acid alpha-glucosidase (GAA), used by the body to break down glycogen. Maintaining proper posture is the key goal while performing any exercise. to determine how well messages are being sent. 2022 Feb 11;11(4):934. doi: 10.3390/jcm11040934. CNBP intron 1 contains a complex repeat motif, (TG)n(TCTG)n(CCTG)n. Expansion of the CCTG repeat causes DM2. Population studies indicate that the prevalence of ALS is increasing, although this may be because of better recognition of the condition and increased longevity of people with ALS. 11(2):129-39. [Full Text]. By continuing, you agree to our terms of use and privacy policy. However, CMT1 is the most common type overall. [QxMD MEDLINE Link]. Virtual reality technologies have been used as a treatment tool in rehabilitation. Cardiac involvement is not seen in peripheral neuropathies or motor neuron diseases. Hemophilia is a rare blood disorder. 136 (13):e200-e231. For the extremities, the goals of bracing should be to improve function and joint stability. Unfortunately, correction of the scoliosis with fusion does not appear to improve pulmonary function. This specialized care option can help you regain your daily functioning as much as possible and slow down the progression of your condition. These disorders classified as muscular dystrophies fall under the broader category of myopathies (myo-, muscle, pathos, disease). 4:1549. Posted by A physical or occupational therapist should evaluate the patient to ensure a proper wheelchair prescription. This allows for the production of an internally truncated but otherwise functional, dystrophin protein. Mitsuhashi S, Kang PB. Governmental agencies that support research in NMDs include the National Institute on Disability and Rehabilitation Research, a division of the Department of Education, and the National Institutes of Health. Am J Hosp Palliat Care. doi: 10.1002/14651858.CD010815.pub2. A large study by Lord et al reported an almost 4-year difference between wheelchair dependence and the onset of significant scoliosis in patients with DMD. This is an area where further investigation is strongly warranted. This may lead to adhesive capsulitis, low back pain, pressure areas on the skin, and generalized myofascial pain. If youre in need of home health care agencies in California, allow Bridge Home Health and Hospice to help. [18] Very mild cases may escape clinical detection but may be diagnosed by DNA analysis or needle electromyography (EMG), which reveals characteristic myotonic dive bomber discharges. The cause of neuromuscular disorders depends on the specific disorder. 2006 Oct. 1082:74-6. These genetic conditions affect muscles and the neurons that fire them. 1998-2023 Mayo Foundation for Medical Education and Research (MFMER). The distinct types of SMA differ clinically. Copyright 2023 Memorial Hermann. and transmitted securely. Mayo Clinic Children's Center in Rochester is ranked the No. This article explains various physical therapies to manage and treat the condition. Memorial Hermann Foundation, a 501(c)(3) Charitable Organization. Muscle cramping is common in patients with NMD because of sarcolemmal instability and is often exacerbated by exercise. [QxMD MEDLINE Link]. Tele-rehab is an emerging area of interest, as a response to the COVID-19 pandemic. Wheelchair Design and Seating Technology: Wheelchairs have been used for people with difficulty walking. This may prolong ambulation, although a number of studies have shown that weakness, not contracture, is the factor that makes the greatest contribution to the loss of functional ambulation. How are neuromuscular disorders diagnosed? Physical therapy is aimed at enhancing balance and flexibility in large muscles, facial muscle exercises, and other types of passive therapies. Neuromuscular Rehabilitation Program | Memorial Hermann This often means balancing the wish to maintain activity levels and independent mobility against the risk of falls and injuries.. 2020 Sep 28;100(10):1717-1729. doi: 10.1093/ptj/pzaa129. This is important because fatigue is a significant limiting factor in physical performance in patients with NMDs. HHS Vulnerability Disclosure, Help Point mutations in PMP22 or the myelin protein zero gene (MPZ) may cause Dejerine-Sottas disease. This may include inhibition of pathways such as transforming growth factor- (TGF-)induced phosphorylation and tumor necrosis factor- (TNF-) activity, among others. Muscle Nerve. Foot deformities in 16-year-old boy with Charcot-Marie-Tooth disease type 1A. 1 hospital in Minnesota, and the five-state region of Iowa, Minnesota, North Dakota, South Dakota and Wisconsin, according to U.S. News & World Report's 2023-2024 "Best Children's Hospitals" rankings. The disease has some clinical variability; however, phenotypic expression does not correlate with the length of CAG repeats. OPMD is rare and is associated with filamentous intranuclear inclusions (INIs), which may cause aggregation of mRNA, although it is not clear if this plays a pathologic role. Garcia N, et al. In Mtm1-mutant mice generated by either a gene knockout, termed 14, or by knock-in of a missense mutation, termed p.R69C, weakness appears largely due to impaired excitation contraction coupling. Some forms of MD appear at birth, while others become apparent during infancy, early childhood, adolescence, middle age, or later. Gait training teaches you to walk normally and comfortably, and it can involve practicing with a cane or walker. Each neuromuscular disorder and each person is unique. Physical medicine and rehabilitation - Wikipedia Neuromuscular Rehabilitation | CMRC You are being redirected to In ambulatory patients, upper-extremity contractures may occur and can be complicated by joint subluxation, particularly in the shoulder girdle. [QxMD MEDLINE Link]. Nat Med. Anxiety undermines quality of life in ALS patients and caregivers. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Fortunately, according to the Cleveland Clinics in-house research, Depression is a treatable comorbidity in all patient groups in the long term, regardless of the neuromuscular diagnosis.. Bensimon G, Lacomblez L, Meininger V. A controlled trial of riluzole in amyotrophic lateral sclerosis. Several of these products are commercially available in the United States, including the Cofflator (Respironics, Pittsburgh, PA) and the In-Exsufflator (JH Emerson Co, Cambridge, MA). Skalsky AJ, Oskarsson B, Han JJ, Richman D. Current pharmacologic management in selected neuromuscular diseases. The symptoms you experience with a neuromuscular disorder vary by the disorder you have. He talks about treatment options for myositis and postural orthostatic tachycardia syndrome (POTS), as well as the current research in the field. 15(4):459-62. Copyright 2023, iCliniq - All Rights Reserved Some patients with BMD may be suitable candidates for cardiac transplantation. J Pharmacol Exp Ther. COVID-19 and neuromuscular disorders. Rheumatoid arthritis is an autoimmune disease. It can be used to minimize the symptoms and delay the disease progression as much as possible. As noted (see above), studies involving patients with NMDs have shown elevated scores for depression on MMPI testing. Some examples of neuromuscular disorders are: Neuromuscular rehabilitation is done to restore the form and function of the affected muscles and to ease the patient of debilitating symptoms. The physician should then assess the patients and familys goals and orchestrate a palliative and rehabilitative program that matches those goals. Read Article, What Is Rheumatoid Arthritis? [25] Many options are available for noninvasive intermittent positive-pressure ventilation (NIPPV). Charcot-Marie-Tooth disease (CMT) can be divided into 2 basic types: primarily demyelinating (with secondary axonal loss) and primarily axonal. All rights reserved. 2009 Aug-Sep. 26(4):308-19. Some investigators blame congestive heart failure as the cause of death in as many as 40% of patients with DMD. If the ankle is significantly unstable, the braces should be high-profile (ie, should come around in front of the malleoli). Whether you are a local, out-of-state or international patient, we work with your doctor to help you continue your rehabilitation plan at home. [32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54]. [62] Lysosomes ingest glycogen, which is converted by GAA into glucose to fuel muscles. The neuromuscular system is the one that helps the movement and coordination of any individual for activities of daily living. [10] Furthermore, males with nonsense mutations have an earlier onset and a more severe phenotype than males with missense mutations. Chronic pain in persons with neuromuscular disease. Arch Phys Med Rehabil. Double metal upright ankle-foot orthoses may be built into the shoe but are usually too heavy and may limit ambulation. Apoptotic bodies can usually be seen in macrophages. Survey of cannabis use in patients with amyotrophic lateral sclerosis. When range of motion of the hip flexors or ankle becomes limited, for example, the spine can bear the burden; in another example, bad posture habits can be assumed to compensate for a lack of external shoulder rotation. PNF stretching is one of the most effective forms of stretching for improving flexibility and increasing range of motion. 45(4):500-6. EDMD is characterized by progressive muscular weakness, joint contractures, and cardiac disease, possibly life threatening. Patients with myocardial involvement need close follow-up and treatment by a cardiologist with expertise in this area. For the activities to be done, the brain, spinal cord, and nerves coordinate even complex activities. 2013 Spring. Some common techniques involved in neuromuscular rehabilitation therapy include: Neuromuscular disorders can make everyday aspects of your life more challenging, but your physician may recommend treatment plans to mitigate their effects. Patients with MMD should receive routine cardiac evaluations. Neurorehabilitation is a necessary component of health care for persons with neurodegenerative diseases. . Handb Clin Neurol. Both tracheostomy and laryngeal diversion facilitate the use of mechanical ventilation, but the patient must understand that neither procedure guarantees a better QOL. [QxMD MEDLINE Link]. CMT X1 is clearly a distinct entity. [24]. [76] Nonetheless, fusion does improve quality of life (QOL) by facilitating positioning, seating, and transfers. Accurate confirmation of the diagnosis is critical and involves thorough clinical evaluation, as well as electrodiagnostic studies and, often, muscle or nerve biopsy. There are numerous reported cases of respiratory failure in people with Charcot-Marie-Tooth disease (CMT), the etiology of which has remained elusive. TIRR Memorial Hermann offers the continuum of care, including, inpatient rehabilitation, outpatient rehabilitation, community reintegration program and a community-based physical activity and recovery program. [QxMD MEDLINE Link]. Walking aids and other activity aids must be evaluated continuously. Before knowi Read Article, Urinating during sex - Causes | Ways to Avoid It, Parasitic Worm Infestations and Deworming, Steatorrhea - Causes | Symptoms | Diagnosis | Treatment, Burning Diarrhea - Causes | Diagnosis | Treatment. 2012 Oct 1. Conversely, malnutrition may mark the advanced stages of DMD, ALS, and SMA. Spinal bracing has not been shown to be effective in preventing progression of neuromuscular scoliosis (though most studies involved patients with SMA). 8(3):822-30. It has been shown to be effective in the treatment of many conditions, [ citation needed ] although not all pathologies have shown treatment effects which persist over time. As muscle weakness progresses, it can start to threaten a patients ability to move through a full range of motion and to stabilize the trunk to balance when walking, pick up the feet, maintain posture, produce speech, swallow, etc. 50 (1):4-13. Nat Commun. DM1 may also be associated with diffuse musculoskeletal pain. Functional training, gait training, mobility training, neuromuscular retraining, pain management, and stretching were employed in neuromuscular rehabilitation. Dietary fiber intake decreased risk, although consumption of antioxidant vitamins from diet or supplement sources did not alter the risk. 2023 Healthline Media LLC. - Congenital myasthenic syndromes (are uncommon genetic or hereditary diseases caused by a defect at the junction where the nerve stimulates motor function, resulting in muscular weakness). Others may progress rapidly and become debilitating or even life threatening. Neuromuscular rehabilitation therapy is a form of therapy that focuses on mitigating the effects of disorders that affect the nerves and muscles. According to the authors of Physical exercise in adults with hereditary neuromuscular disease published in the Journal of the Norwegian Medical Association, Balance training can improve bodily awareness and confidence in maintaining balance, and reduce the risk of falls. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. Carter GT, Jensen MP, Galer BS, Kraft GH, Crabtree LD, Beardsley RM, et al. Physiotherapy involves daily stretching activities to improve the range of motion and to splint (for immobilization) that will help minimize the changes made by these exercises. Improving cardiopulmonary performance through aerobic exercise not only enhances physical functioning but also leads to a better mood state and helps fight depression. Tizanidine and gabapentin may also be helpful in this situation. [73]. San Diego, CA, 92122. What is Neuromuscular Therapy: 6 Things to Know - Rehab Select ABPMR - Neuromuscular Medicine Neurorehabilitation is a necessary component of health care for persons with neurodegenerative diseases. This results in diffuse muscular weakness and atrophy. Neuromuscular Reeducation (NMR)|How Does It Work - Epainassist Neuromuscular diseases (NMDs), a . Strength, power, speed, and hypertrophy training are the best types of exercise to increase the neuromuscular system's resistance to fatigue because they effectively integrate various body segments to produce explosive movements or lift heavy loads, which requires more neuromuscular involvement than any other exercise. Structural or neuromuscular disorders, such as Bells palsy, cervical spondylosis, carpal tunnel syndrome, brain or spinal cord tumors, peripheral . These patients do not have enough upper-extremity strength to propel a manual chair by themselves. Pharmacologically targeting the primary defect and downstream pathology in Duchenne muscular dystrophy. (EDMD has both X-linked and autosomal inherited forms. Impact of biopsychosocial factors on chronic pain in persons with myotonic and facioscapulohumeral muscular dystrophy. 2008 Aug 19. A review by Benatar et al of randomized, controlled trials sought to determine whether treatment response differed between patients with familial ALS and persons with the sporadic form of the disease. [QxMD MEDLINE Link]. Handb Clin Neurol. [QxMD MEDLINE Link]. 2017 Dec 4. One person may have very mild symptoms while another person may have life threatening symptoms. Choking and recurrent aspiration pneumonia may occur, requiring gastrostomy tube placement. Although a comprehensive discussion of clinical trials of drugs developed to treat NMD is beyond the scope of this article, some of the major advances are worth noting. What is Neuromuscular Therapy? In fact, MS is a demyelinating disease of the CNS; it is not an NMD, even though the symptoms of MS may sometimes superficially resemble the symptoms associated with NMDs. What is the strongest muscle in the human body? The speed can be controlled manually. SMA III, also known as Kugelberg-Welander disease (see the image below), has a much later onset (typically, age 5-15 years) and is associated with much less morbidity. In addition, histochemical evidence showed considerably more damage to the exercise-weakened muscles than to the control nonexercised mdx muscles (see the image below). Pain in youths with neuromuscular disease. The site is secure. The proximal trachea is sewn either over or side-on-end into the esophagus. 2012 Nov. 23(4):801-20. Most LGMDs are caused by mutations in genes encoding dystrophin-associated sarcoglycans and may be referred to as dystroglycanopathies. In view of the results from the animal studies and the available human studies, all patients with NMDs should be advised not to exercise to exhaustion, because of the risk of exercised-induced muscle damage. 1992 Feb. 71(1):2-5. Zebrafish based small molecule screens for novel DMD drugs. Mori L, Signori A, Prada V, et al. Some disease-specific QOL assessment tools, most notably the NeuroQOL and the Amyotrophic Lateral Sclerosis Assessment Questionnaire (ALSAQ-40), have been developed specifically for NMD patients. 301(1):C195-203. Respiratory failure in fascioscapulohumeral dystrophy (FSHD) is not typically seen. Congenital hypomyelinating neuropathy is a severe and often fatal newborn disorder that presents with respiratory distress at birth and has been linked to the early growth response gene 2 (EGR2) in some families. According to Demir, In a study of 88 male patients with progressive musculoskeletal dystrophy, it was found that patients had problems in participating in private life and professional life and that more than half of the cases considered themselves to be socially isolated . Lewelt A, Newcomb TM, Swoboda KJ. [43] It is the first agent approved by the US Food and Drug Administration (FDA) for use in ALS patients. 2013:391821. [QxMD MEDLINE Link]. - Headaches. Aartsma-Rus A, Kaman WE, Weij R, den Dunnen JT, van Ommen GJ, van Deutekom JC. It has been mapped to chromosome band 5q11.2-13.3; however, commercial testing is not yet available, because adult-onset SMA and SBMA are far less common forms of SMA. This article takes a look at the different types of neuromuscular disorders, what their symptoms include, and what treatments may help. The https:// ensures that you are connecting to the However, whether this represents a subset of patients with a slower disease progression and relatively less weakness is unclear. Other warning signs include severe muscle cramping, heaviness in the extremities, and prolonged dyspnea. 47(5):649-63. Anosognosia: Anosogonia refers to a condition in which the individual has a deficit in self-awareness. Pain is a significant problem for most patients with NMD, though it is not typically a direct consequence of the disease. BMC Pediatr. Neuromuscular and Muscular Electrical Stimulation (NMES) is a modality that sends electrical impulses to nerves which causes the muscles to contract mimicking the action potential coming from the central nervous system. Some varieties of CMT X1 may exhibit abnormal temporal dispersion and heterogeneous conduction velocities that are very atypical of other hereditary neuropathies. Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study. Dr. Chung can provide evaluation, diagnosis and custom treatment recommendations. However, an alternative procedure, laryngeal diversion (or laryngotracheal separation), has several distinct advantages over tracheostomy. These conditions include stroke, myositis, multiple sclerosis (MS), and Parkinson's disease. Assistive devices, hip precautions, environmental modifications and training to prevent dislocation and improve function after hip arthroplasty. The majority of people are recognized neuromuscular massage treatment for its potential to ease back pain or any other muscular soreness. Living with a neuromuscular disorder is never easy. [QxMD MEDLINE Link]. Progress in therapy for Duchenne muscular dystrophy. Riluzole is a neuroprotective agent that appears to inhibit glutaminergic neurotransmission in the spinal cord. Lambert-Eaton myasthenic syndrome. Cochrane Database Syst Rev. [8]. 8600 Rockville Pike SMA II may not become apparent until age 6-18 months. Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy. Several studies have documented that a lack of lower-extremity weight bearing and wheelchair dependence contribute to the development of contractures. The neuromuscular system is a collective term that refers to the nerves and muscles found in the human body. Support groups and education are offered to give patients and families the tools and skills to meet their immediate needs and also prepare for future needs. 2003 Aug 1. 1992 Jul. Curr Neurol Neurosci Rep. 2013 Mar. 1(1):19-29. Thus, patients with neuromuscular disease (NMD) may have difficulty inhaling and exhaling; this also includes coughing. Am J Hosp Palliat Care. Slings may help provide support but will not prevent contracture formation. 2003 Aug. 9(8):1009-14. (n.d.). Read about research in neuromuscular diseases and ALS. 2010 Dec. 4(2):82-8. Moreover, about 2-5% of FSHD cases appear not to be linked to the 4q35 deletion on chromosome 4. Pes cavus and hammertoe deformities can be accommodated with built-up arches and metatarsal bars. Phys Med Rehabil Clin N Am. Neuromuscular Rehabilitation in Lewiston, ME 04240 - (207) 753-0100 Researchers cant currently establish a firm link between neuromuscular disorders and the COVID-19 vaccine. Disorders that affect voluntary muscles can be genetically inherited (passed down from your parents) or may develop over time as a complication of certain health conditions such as an autoimmune disorder. Progressive muscular dystrophies. Please enable it to take advantage of the complete set of features! Frequently asked questions about neuromuscular disorders, rarediseases.org/rare-diseases/amyotrophic-lateral-sclerosis/, thoracic.org/patients/patient-resources/resources/neuromuscular-weakness-adult.pdf, rarediseases.org/rare-diseases/charcot-marie-tooth-disease/, rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/, pubs.acs.org/doi/10.1021/acsmedchemlett.7b00546, ncbi.nlm.nih.gov/pmc/articles/PMC5900978/, n.neurology.org/content/neurology/94/22/959.full.pdf, rarediseases.org/rare-diseases/guillain-barre-syndrome/, nyp.org/neuro/neuromuscular-disorders/treatment-and-procedures, ninds.nih.gov/health-information/disorders/hypotonia, rarediseases.org/rare-diseases/lambert-eaton-myasthenic-syndrome/, rarediseases.org/rare-diseases/multiple-sclerosis/, rarediseases.org/rare-diseases/myasthenia-gravis/, ninds.nih.gov/myasthenia-gravis-fact-sheet, betterhealth.vic.gov.au/health/conditionsandtre, cedars-sinai.org/health-library/diseases-and-conditions/n/neuromuscular-disorders.html, effectivehealthcare.ahrq.gov/health-topics/neuromuscular-disorders, pennmedicine.org/for-patients-and-visitors/find-a-program-or-service/neurology/neuromuscular-disorders, rarediseases.org/rare-diseases/spinal-muscular-atrophy/, frontiersin.org/articles/10.3389/fneur.2021.607790/full, loc.gov/everyday-mysteries/biology-and-human-anatomy/item/what-is-the-strongest-muscle-in-the-human-body, Researchers Looking at CRISPR Gene-Splicing Technology to Help Treat Dementia, ALS, What to Know About Guillain-Barr Syndrome After Peru Outbreak, Nicole Leigh Aaronson, MD, MBA, CPE, FACS, FAAP, drugs to relieve muscle pain, weakness, cramps, and stiffness, drugs to address nerve impulses and strength in the muscles, other factors such as age and other health conditions.
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