The patient will most commonly present with muscle hypertrophy, a positive family history, and muscle stiffness with repeated activity. The creatine kinase may be elevated. Abnormal thyroid function should be ruled out due to a similar presentation. [ncbi.nlm.nih.gov]

Although the present case refers to congenital DM1, the infant presented with a milder disease than it would be expected, not requiring ventilatory support. [scielo.mec.pt]

Guidelines on clinical presentation and management of nondystrophic myotonias. [scielo.sa.cr]

• Falling

  Falls and resulting fractures in myotonic dystrophy: results from a multinational retrospective survey. Neuromuscul Disord. 2018;28:229–35. [PubMed: 29361394] Johnson NE, Abbott D, Cannon-Albright LA. [ncbi.nlm.nih.gov]

• Pain

  The patient may also describe symptoms such as pain, weakness, and fatigue due to prolonged muscle contraction. [ncbi.nlm.nih.gov]

• Heart Failure

  […] in heart failure patients: a stress-echocardiography and cardiopulmonary exercise test study 2014-01-01 Valutazione tridimensionale del volume e della vascolarizzazione della placenta in gravidanze a rischio 2006-01-01 Deep wide-field photometry of the [art.torvergata.it]

• Muscular Atrophy

  : «Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24-31». Hum. Mol. [jmunozy.org]

However, the patient would again not likely suffer such a condition on an episodic basis over an extended period of time, and further workup may reveal a source of electrolyte disturbance. [ncbi.nlm.nih.gov]

The interprofessional team will improve timely diagnosis and appropriate treatment. [ncbi.nlm.nih.gov]

Children affected by this condition should have a multidisciplinary follow-up and support treatment. Physiotherapy, occupational therapy, and orthopedic treatments are important to prevent complications and maximize muscle function. [scielo.mec.pt]

Prognosis Non-dystrophic myotonias have generally been regarded to have a benign prognosis. However, data is limited due to the relative rarity of the illnesses. [ncbi.nlm.nih.gov]

Congenital myotonic dystrophy - Incidence, clinical aspects and early prognosis. Acta Paediatr Scand. 1986; 75:849-54. [ Links ] 5. Campbell C, Levin S, Siu VM, Venance S, Jacob P. [scielo.mec.pt]

Many etiologies result in myotonia, including dystrophic and non-dystrophic myotonias. [ncbi.nlm.nih.gov]

[…] calcium channelopathy) [3] Hypokalemic periodic paralysis type 2 (SCN4A gene, sodium channelopathy) [3] Hyperkalemic periodic paralysis (SCN4A gene, sodium channelopathy) [3] Andersen-Tawil syndrome (KCNJ2 gene, potassium rectifying channelopathy) [3] Epidemiology [ncbi.nlm.nih.gov]

Physiotherapy, occupational therapy, and orthopedic treatments are important to prevent complications and maximize muscle function. Many children will require special education due to intellectual disability. [scielo.mec.pt]