Slight CK elevation, present in both our patients, strengthens the suspicion of muscular disease. [elsevier.pt]

We present here a case of Emery-Dreifuss muscular dystrophy with an unusually severe, early presentation. He presented at 2.5 years with predominantly proximal weakness and mild equinovarus deformity of the right foot. [ncbi.nlm.nih.gov]

• Pain

  Pain Center If you are one of the millions of Americans who suffer from pain, you know that it can take a toll on your life - both physically and emotionally. But, you do not have to accept chronic pain as a normal part of life in all cases. [excelahealth.org]

  Signs and symptoms, which typically appear in early childhood, might include: Frequent falls Difficulty rising from a lying or sitting position Trouble running and jumping Waddling gait Walking on the toes Large calf muscles Muscle pain and stiffness [mayoclinic.org]

  Aches or pains in the muscles. Contractures - in which joints are tight, due to tightness of the muscles or reduced movement of the joints. [patient.info]

  If you have limb-girdle MD, you may experience: muscle weakness in your hips, thighs and arms loss of muscle mass in the affected areas back pain heart palpitations or irregular heartbeats The muscle weakness will create problems such as difficulty lifting [nhs.uk]

  Myotonic dystrophy and pain management of a patient undergoing total abdominal hysterectomy in a metropolitan general hospital. Anaesth Intensive Care 2006; 34:506-509. [ Links ] 57. Chuang MC, Duggan LV, Van Heest RD, et al. [scielo.org.co]

• Falling

  When to see a doctor Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in you or your child. [mayoclinic.org]

  Symptoms usually relate to motor difficulties and may include: excessive falling or clumsiness delayed milestones difficulty getting up from the floor difficulty climbing stairs weakness of legs and/or arms toe-walking Physical signs include: large or [clevelandclinic.org]

  […] muscle strengthening) to maintain mobility & function 1 OT to optimize ADL Inpatient rehabilitation w/OT/PT may improve ataxia & functional abilities in patients w/degenerative ataxias. 2, 3 Weight control to avoid obesity Home adaptations to prevent falls [ncbi.nlm.nih.gov]

• Weight Gain

  Steroids also carry potential risks and adverse effects such as weight gain (possibly making weakness worse), growth impairment, and osteopenia (decrease in bone mass), among others. [clevelandclinic.org]

  Growth deficiency worsens with advancing age despite adequate weight gain. Hyperopia with intermittent strabismus has been reported. [ncbi.nlm.nih.gov]

• Developmental Delay

  Developmental delay in a child (this means that the child's 'milestones' of development are later than usual). Some types of MD can affect the heart. In some cases, there may be symptoms of heart disease without much in the way of muscle weakness. [patient.info]

• Pneumonia

  Choking and recurrent pneumonia may occur. Distal. This group of rare diseases affects adult men and women. It causes weakness and wasting of the distal muscles (those farthest from the center) of the forearms, hands, lower legs, and feet. [webmd.com]

  If the muscles involved with swallowing are affected, nutritional problems and aspiration pneumonia can develop. Feeding tubes might be an option. Feb. 11, 2022 [mayoclinic.org]

  Most deaths related to myotonic dystrophy are related to pneumonia, breathing problems or heart problems. [nhs.uk]

  Early death has been reported in two individuals: one age 22 years with severe kyphoscoliosis and restrictive lung disease who died of pneumonia and sepsis [ Attali et al 2009 ], and an infant age four months who presented with severe neonatal hypotonia [ncbi.nlm.nih.gov]

• Aspiration

  If the muscles involved with swallowing are affected, nutritional problems and aspiration pneumonia can develop. Feeding tubes might be an option. Feb. 11, 2022 [mayoclinic.org]

  Feeding/Dysphagia Gastroenterology / nutrition / feeding team Modify food consistency to reduce aspiration risk &/or consider NG feeding & gastrostomy. [ncbi.nlm.nih.gov]

• Muscular Atrophy

  The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. [connects.catalyst.harvard.edu]

  A 32-year-old woman is described as having the following characteristics of Emery-Dreifuss muscular dystrophy: humeroperoneal muscular atrophy and weakness, neck and elbow contractures with sinus bradycardia, first-degree atrioventricular block, and dilated [ncbi.nlm.nih.gov]

  Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene. Neuromusc Disord 1992;2:111-115. [ Links ] 9. Emery EHA. The nosology of the spinal muscular atrophies. J Med Genet 1971;8:481 [ Links ] 10. [scielo.br]

  ATROPHIES & MOTOR NEURON DISEASES Spinal muscular atrophy, type I-IV (SMN1) Spinal muscular atrophy, autosomal dominant, proximal, adult-onset (VAPB) Spinal muscular atrophy with respiratory distress (IGHMBP2) Spinal and bulbar muscular atrophy, X-linked [meduniwien.ac.at]

  Dystrophy - som.unm.edu/programs/opmd Spinal Muscular Atrophy - smaregistry.iu.edu [cmdir.org]

• Muscle Spasm

  Upper motor neuron involvement (spasticity) Pharmacologic treatment Baclofen, tizanidine, or dantrolene may relieve muscle spasms & spasticity; however, there are no specific guidelines for SYNE1 deficiency. [ncbi.nlm.nih.gov]

• Myalgia

  […] with or without Rhabdomyolysis) Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Congenital Fiber Type Disproportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis [cmdir.org]

• Peripheral Neuropathy

  Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry. 2005 Jul. 76(7):1019-21. [Medline]. [Full Text]. Bengtsson L, Wilson KL. [emedicine.com]

  Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. [ncbi.nlm.nih.gov]

• Ataxia

  SARA = Scale for the Assessment and Rating of Ataxia; ICARS = International Co-operative Ataxia Rating Scale; BARS = Brief Ataxia Rating Scale 2. Table 8. [ncbi.nlm.nih.gov]

  […] of complicated spastic-ataxia phenotypes. [unboundmedicine.com]

  Spinocerebellar ataxia 2 (ATXN2) Spinocerebellar ataxia 3 (ATXN3) Spinocerebellar ataxia 6 (CACNA1A) Spinocerebellar ataxia 7 (ATXN7) HEREDITARY CARDIOMYOPATHIES Cardiomyopathy, familial hypertrophic (CAV3) Dilated cardiomyopathy, 1I (DES) Cardiomyopathy [meduniwien.ac.at]

  Gros‐Louis F, Dupre N, Dion P, et al. (2007) Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nature Genetics 39 (1): 80–85. [els.net]

• Waddling Gait

  Waddling gait, lumbar lordosis, and weakness of the shoulder girdle become apparent during adolescence. Mild pectus excavatum may be present. [whonamedit.com]

  Inability to rise to an upright position without turning to the side, waddling gait, and progressive weakness are the characteristic features. Pseudohypertrophy of the calf muscles is due to fibrous tissue and fat infiltration. [icd9data.com]

  Signs and symptoms, which typically appear in early childhood, might include: Frequent falls Difficulty rising from a lying or sitting position Trouble running and jumping Waddling gait Walking on the toes Large calf muscles Muscle pain and stiffness [mayoclinic.org]

  Other symptoms include enlargement of the calves, a waddling gait, and lumbar lordosis (an inward curve of the spine). Later on, the heart and respiratory muscles are affected as well. [mda.org]

• Clumsiness

  When to see a doctor Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in you or your child. [mayoclinic.org]

  Symptoms usually relate to motor difficulties and may include: excessive falling or clumsiness delayed milestones difficulty getting up from the floor difficulty climbing stairs weakness of legs and/or arms toe-walking Physical signs include: large or [clevelandclinic.org]

  Clinical features Cerebellar ataxia Progressive ataxia of gait Clumsiness of hands Dysmetria Dysarthria Abnormalities in ocular saccades and smooth pursuit Upper and/or lower motor neuron involvement Spasticity, hyperactive deep tendon reflexes, extensor [ncbi.nlm.nih.gov]

• Paresis

  This patient also had mild bifacial paresis. His brothers had the typical slow progression of EMD. [ncbi.nlm.nih.gov]

  Charcot-Marie-Tooth neuropathy, X-linked (GJB1) Charcot-Marie-Tooth disease, type 4A (GDAP1) Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1) Charcot-Marie-Tooth disease, recessive intermediate, A (GDAP1) Charcot-Marie-Tooth disease, axonal, with vocal cord paresis [meduniwien.ac.at]

Further workup revealed that the patient had severe anoxic encephalopathy. She was eventually made "do not resuscitate," and she died on the sixth day of hospitalization. [ncbi.nlm.nih.gov]

Treatment of the cardiac disease: anti-arrhythmic agents including beta-blockers, diuretics, ACE inhibitors, cardiac devices (pacemaker, implantable cardiac defibrillator) when required, heart transplantation in case of end-stage heart failure, and treatment [orpha.net]

Treatment - Emery-Dreifuss muscular dystrophy Surgery to release contractures and manage scoliosis as needed; aids (canes, walkers, orthoses, wheelchairs) as needed to help ambulation; treatment for cardiac arrhythmias, AV conduction disorders, congestive [checkorphan.org]

Other possible forms of management and treatment are the following: Orthopaedics Surgery Monitor/treat any cardiac issuesMedication (beta-blockers, ACE inhibitors)Respiratory aid Physical therapy Laminopathies Noncompaction cardiomyopathy Manila, S.; [en.wikipedia.org]

It first affects the atria, which results in atrial paralysis; treatment with ventricular pacing is usually needed. Female carriers can develop heart problems and are at risk of sudden death. [ncbi.nlm.nih.gov]

Prognosis - Emery-Dreifuss muscular dystrophy The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder. [checkorphan.org]

Prognosis Prognosis depends on the severity of muscle weakness, joint contractures, and of the cardiac and respiratory involvement. Patients with severe forms of the disease may lose the capacity to walk or require intermittent nasal ventilation. [orpha.net]

Clinical outcome and prognosis is frequently determined by the involvement of the cardiac conduction system causing symptomatic bradyarrhythmias, as well as tachyarrhythmias and, if untreated, frequent sudden cardiac death. [ncbi.nlm.nih.gov]

Etiology Several causative genes have been identified encoding ubiquitous proteins including emerin ( EMD ; Xq28 and FHL1 ; Xq26.3) for X-linked EDMD and lamin A/C ( LMNA ; 1q21.2) for EDMD with autosomal transmission. [orpha.net]

Summary Epidemiology Emery-Dreifuss muscular dystrophy (EDMD) prevalence is estimated at 1 in 400,000. [orpha.net]

Myology (14-18 March 2016; Centre convention, Lyon, France) 2016, p. 178-181 DMED : 15e réunion annuelle du réseau français Cukierman L 2016 Un nouveau phénotype pour les titinopathies Urtizberea JA 2016 A Systematic Review and Meta-analysis on the Epidemiology [myobase.org]

The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: An evidence review. Orphanet Journal of Rare Diseases (2017). doi:10.1186/s13023-017-0631-3 Moat, S. J., Bradley, D. M., Salmon, R., Clarke, A. & Hartley, L. [mda.org]

A systematic review and meta-analysis on the epidemiology of the muscular dystrophies. Can J Neurol Sci. 2016 Jan;43:163-77. Hilbert JE, Ashizawa T, Day JW, et al. Diagnostic odyssey of patients with myotonic dystrophy. [cdc.gov]

Epidemiology Frequency No good data exist concerning the frequency of EMD1 or EMD2, but more than 70 different mutations have been reported in the EMD gene and more than 100 in LMNA. [emedicine.com]

In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiology of lamin-related muscular [ncbi.nlm.nih.gov]

Pathophysiology In 5 of 6 gene mutations that have been shown to cause EDMD, the affected protein is present in the LINC (linker of nucleoskeleton and cytoskeleton) complex. [emedicine.com]

Prevention - Emery-Dreifuss muscular dystrophy physical therapy and stretching to prevent contractures; implantation of cardiac defibrillators to reduce risk of sudden death. [checkorphan.org]

When added to assembled nuclei, LB3T-Ig prevents the further incorporation of lamin B3 into the endogenous lamina and blocks nuclear growth. [ncbi.nlm.nih.gov]