AB - Background: Dropped head syndrome is an easily recognizable clinical presentation of. Lamin A/C-related congenital muscular dystrophy. [mayoclinic.pure.elsevier.com]

Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. [ncbi.nlm.nih.gov]

We present the evolution of cardiac disease in three children with congenital muscular dystrophy presentation of LMNA -related muscular dystrophy. In this series, atrial arrhythmia was the presenting cardiac finding in all three patients. [cambridge.org]

Patients typically presented with selective axial weakness and wasting of the cervicoaxial muscles. Limb involvement was predominantly, proximal in upper extremities and distal in lower extremities. [discovery.ucl.ac.uk]

• Disability

  2T Behavioral variant of frontotemporal dementia Combined immunodeficiency due to STK4 deficiency Congenital bilateral absence of vas deferens Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with intellectual disability [csbg.cnb.csic.es]

  Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive [ncbi.nlm.nih.gov]

  CMD without intellectual disability, LGMD with intellectual disability, LGMD without intellectual disability Congenital disorders of glycosylation ( CDG ) DPM1, DPM2, DPM3 CDG1E, CDG1U, CDG1O ✓ CDG with abnormal alpha-dystroglycan glycosylation Dystrophinopathies [invitae.com]

  However, in some rare cases, affected individuals do have such abnormalities and often have mild intellectual disability. [rarediseases.org]

• Lordosis

  Talipes feet and a rigid spine with thoracic lordosis developed early. Proximal contractures appeared later, most often in lower limbs, sparing the elbows. Ten children required ventilatory support, three continuously through tracheotomy. [ncbi.nlm.nih.gov]

  Here, we describe a 3-year-old, white Caucasian girl with a novel de novo mutation in the LMNA gene with marked hypotonia of neck and trunk muscles with dropped head posture, loss of cervical lordosis and marked joint laxity. [pubmed.ncbi.nlm.nih.gov]

  Other features of L-CMD often include spinal rigidity and abnormal curvature of the spine (scoliosis and lordosis); joint deformities (contractures) that restrict movement, particularly in the hips and legs; and an inward-turning foot. [medlineplus.gov]

  By the early teens, waddling gait with increased lumbar lordosis was marked and weakness of the shoulder girdle musculature appeared later. [genome.jp]

• Neck Muscle Weakness

  Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. Case description: Two patients exhibited head drop during infancy although they were able to sit independently. [mayoclinic.pure.elsevier.com]

  weakness Congenital hip dislocation Dyspnea Joint hypermobility Areflexia Respiratory insufficiency Hypoplasia of the pons Dilatation Myopia Ataxia Left ventricular septal hypertrophy Limb joint contracture Neck muscle weakness Bilateral talipes equinovarus [mendelian.co]

• Peripheral Neuropathy

  The patient’s father underwent clinical and neurophysiological evaluation and did not show any signs of peripheral neuropathy. [jnnp.bmj.com]

  Heart changes in the familial type of paramyloidosis with peripheral neuropathy. Z Kreislaufforsch 1963;52:1066–1078. 3. Hertzman PA, Maddoux GL, Sternberg EM, et al. [synapse.koreamed.org]

  Clinical peripheral distal neuropathy was confirmed in patients KII-1 and KIII-1, who were known to have multicomplicated diabetes. [academic.oup.com]

  Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1019-21. 59- D'Apice MR, Tenconi R, Mammi I, van den Ende J, Novelli G. [umd.be]

• White Matter Lesions

  Thus, white matter involvement might be a feature in A-type lamin-related congenital muscular dystrophy, warranting screening of these patients for both white matter lesions and cognitive impairment. [pubmed.ncbi.nlm.nih.gov]

Said one parent of an affected child, “I'm very impressed and touched to see that many professionals are working hard to find answers, a treatment and ultimately a cure to our condition. [raredr.com]

There is currently no treatment for these conditions; though optimizing and standardizing care and care delivery can promote significant gains in quality of life and survival. [clinicaltrials.gov]

[…] was founded in 2008 to advance research for treatments and a cure for the congenital muscular dystrophies. [globalgenes.org]

He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.com]

Treatment - Limb-girdle muscular dystrophy- type 1B Not supplied. Resources - Limb-girdle muscular dystrophy- type 1B Not supplied. [checkorphan.org]

Symptoms are managed for each individual and may involve the coordination of several healthcare specialists. [3] Prognosis [ edit ] There is an open prognosis because this disease has an unknown evolution. [en.wikipedia.org]

The management is aimed more at treating the symptoms and controlling the complications (if any) The prognosis depends on the severity of the muscle contractures and the degree of cardiac involvement Emery-Dreifuss Muscular Dystrophy is a genetic disorder [dovemed.com]

Prognosis - Limb-girdle muscular dystrophy- type 1B The gene for LGMD 1B has been linked to chromosome 1q11-q21. This form of LGMD was linked in several families in 1997. [checkorphan.org]

Prognosis is usually largely influenced by cardiac status. [academic.oup.com]

Genetic counselling provides information on the inheritance pattern, risks to other family members, and the ‘prognosis’ (likely outcome of the disorder). [mda.org.au]

Diagnosis and etiology of congenital muscular dystrophy. Neurology 2008 71: 312-321. [treatneuro.com]

However, genetic lipodystrophies can be further subdivided on the basis of their clinical phenotype, complications and genetic etiology. [edmcasereports.com]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

Chin Yee Ho, Diana E Jaalouk and Jan Lammerding, Novel insights into the disease etiology of laminopathies, Rare Diseases, 10.4161/rdis.27002, 1, 1, (e27002), (2014). [doi.org]

Autonomic etiology of heart block in amyotrophic lateral sclerosis: a case report. J Med Case Rep 2014;8:224. 12. Massari FM, Tonella T, Tarsia P, Kirani S, Blasi F, Magrini F. Tako-tsubo syndrome in a young man with amyotrophic lateral sclerosis. [synapse.koreamed.org]

Infection control and hospital epidemiology : the official journal of the Society of Hospital Epidemiologists of America. (2005) [ Pubmed ] [wikigenes.org]

Neuromuscular Disord, 2001, vol. 11 (pg. 178 - 85 ) 40 The 10 autosomal recessive limb-girdle muscular dystrophies, Neuromuscular Disord, 2003, vol. 13 pg. 532 41 The heart in limb girdle muscular dystrophy, Heart, 1998, vol. 79 (pg. 73 - 7 ) 42 Genetic epidemiology [academic.oup.com]

Muscular or cardiac involvement in typical FPLD also raises questions about the pathophysiology of the disease. [academic.oup.com]

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. Hum Mutat. 2006 ; 27 : 524–531. [circgenetics.ahajournals.org]

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. [umd.be]

This prevented the proper organization of the neuromuscular junction and disrupted muscle fiber innervation, says author Alexandre Méjat. [news-medical.net]

[…] the arms and lower legs, and heart conduction abnormalities The diagnosis of this genetic disorder includes a complete medical history, a thorough physical exam and tests such as electromyography and muscle biopsy There is no definitive treatment and prevention [dovemed.com]

DNA diagnosis of EDMD is important boht for medical genetic counseling and for patients' management: timely diagnosis of the disease allows one to prevent fatal cardiologic complications. [uniprot.org]

Prevention - Limb-girdle muscular dystrophy- type 1B Not supplied. Diagnosis - Limb-girdle muscular dystrophy- type 1B Not supplied. Prognosis - Limb-girdle muscular dystrophy- type 1B The gene for LGMD 1B has been linked to chromosome 1q11-q21. [checkorphan.org]