Neuromuscular Disease History
The common presenting chief complaints from parents or children with suspected neuromuscular disorders may include infantile floppiness or hypotonia, delay in motor milestones, feeding and respiratory difficulties, abnormal gait characteristics, frequent falls, difficulty ascending stairs or arising from the floor, and muscle cramps or stiffness.
Teenagers with later-onset disorders may present with chief complaints of strength loss or decreasing endurance, falls, difficulty ascending stairs, exercise intolerance, episodic weakness, muscle cramps, focal wasting of muscle groups, breathing difficulties, or bulbar symptoms such as speech and swallowing difficulties.Information should be obtained about the recent course of the chief complaint, specifically whether the process is getting worse, staying the same, or getting better. If strength is deteriorating, it is important to ascertain the rate of progression (ie, is weakness increasing over days, weeks, months, or years?). It is critical to determine whether the distribution weakness is predominantly proximal, distal, or generalized. It is also useful to identify factors that worsen or help primary symptoms. A history of twitching of muscles may reflect fasciculations. Tremor or balance problems may be due to distal weakness or superimposed cerebellar involvement.
Bulbar involvement may be identified if the individual has difficulty with chewing, swallowing, or speech articulation. Visual complaints (blurriness or diplopia) may indicate the presence of cataracts or possible involvement of extraocular musculature. Distal stocking glove or focal sensory complaints may be consistent with a peripheral neuropathy or focal nerve entrapment. A comprehensive past medical history and surgical history should be obtained. A history of recent illnesses should be carefully elucidated, including respiratory difficulties, aspiration pneumonias or recurrent pulmonary infections.
In addition, such cardiac symptoms as dizziness, syncope, chest pain, orthopnea, or exertional complaints may indicate superimposed involvement of the myocardium. A review of pulmonary symptoms should be obtained. A history of weight loss may be due to recurrent illnesses, nutritional compromise, swallowing difficulty, or progressive lean tissue atrophy.A detailed history regarding pregnancy (eg, quality of fetal movement or pregnancy complications) and perinatal problems (evidence of fetal distress, respiratory difficulties in the recovery room, need for resuscitation or ventilation problems in early infancy, ongoing respiratory difficulties, swallowing/feeding difficulties, and persistent hypotonia) should be obtained. Perinatal respiratory distress in the delivery room may be seen in acute infantile type I SMA, myotubular myopathy, congenital myotonic muscular dystrophy, congenital hypomyelinating neuropathy, infantile congenital myasthenic syndrome, transitory neonatal myasthenia, and severe neurogenic arthrogryposis.
History regarding the child's acquisition of developmental milestones should be ascertained relating to head control, independent sitting, crawling, standing with and without support, walking with and without support, fine motor prehension, bimanual skill acquisition (bringing objects to midline, transfer of objects), and language acquisition. Information regarding gait characteristics (toe walking, excessive lordosis, etc.), running ability, transitions from floor to standing, stair climbing, falls, recreational/athletic performance, pain or muscle cramps and easy fatigue, or lack of endurance may be important clues to the presence of a neuromuscular disorder. History regarding mental development, type of school, and school performance may be important indicators of superimposed central nervous system (CNS) involvement. For the older child, a detailed history regarding the age of onset of symptoms, paraprogression, distribution of weakness, presence of muscle cramps, fatigue, episodic weakness, presence of atrophy of fasciculations, performance in physical education, current and past ambulatory distances, ability to move from floor to standing, problems climbing stairs, and problems reaching overhead or dressing may all be important functional information.
A history of muscle cramps at rest or with exertion may be associated with a muscular dystrophy, metabolic myopathy, toxic myoglobinuria, inflammatory myositis, or other lower motor neuron disorders.
A thorough anesthetic history should be obtained. Malignant hyperthermia is associated with primary familial malignant hyperthermia, central core congenital myopathy, Duchenne muscular dystrophy (DMD), and Becker muscular dystrophy (BMD). Other neuromuscular disease (NMD) conditions occasionally associated with malignant hyperthermia include Fukuyama congenital muscular dystrophy, limb girdle muscular dystrophy (LGMD), fascioscapulohumeral muscular dystrophy (FSHD), periodic paralysis, myotonia congenita, mitochondrial myopathy, and Schwartz- Jampel syndrome.