40-year-old with<unk>  who presented with muscle wasting, bilateral cataracts, and complete heart block<unk>  causes muscle weakness, early onset of cataracts, and<unk> , which is delayed relaxation of muscles after contraction. Cataracts can be either a cortical cataract with a blue dot appearance, or a posterior subcapsular cataract. Other organs affected include the heart, lungs, gastrointestinal tract, skin, and brain. Insulin resistance can also occur. Signs and symptoms vary considerably by severity, unusual phenotype, and form <unk> 1/DM2).<unk> 1 and<unk> 2 differ in regards to the muscles they affect, age of onset, severity of disease, and extramuscular manifestations.<unk> 1<unk> 1 usually begins in the muscles of the hands, feet, neck, or face. One manifestation of facial weakness is drooping of the eyelid (ptosis). It slowly progresses to involve other muscle groups, including the heart.<unk>  tends to be more prominent in<unk> 1 compared to<unk> 2. Other<unk> 1 manifestations include problems with executive function (e.g., organization, concentration, word-finding) and hypersomnia. Abnormalities in the electrical activity of the heart are common in<unk> 1, manifesting as arrhythmias or conduction blocks. Sometimes, dilated cardiomyopathy occurs. Symptoms onset any time from birth to adulthood. The earlier the disease onset, the greater the variety of possible signs and symptoms. Thus, various diagnostic classifications based on the age of onset/severity of the disease have been proposed, although<unk> 1 manifestations likely lie on a continuum. Congenital<unk> 1 When<unk> 1 onsets at birth, it is called congenital<unk> 1. Manifestations that can be present at birth include hypotonia, respiratory failure, feeding difficulty, and club foot (talipes equinovarus), any of which tend to resolve over several years. During childhood, intellectual impairment, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorders (ASD) can result. Gastrointestinal issues can result, which can be severe, manifestations including diarrhea, constipation, and fecal incontinence. The symptoms of adult<unk>  often manifest during adolescence. Infantile<unk> 1 can be distinguished as another disease category, or it can be grouped with congenital<unk> 1 or childhood-onset<unk> 1. Childhood-onset<unk> 1 Childhood-onset<unk> 1 is defined as onset of symptoms between ages 1 and 10 years. Manifestations include the same intellectual and gastrointestinal symptoms seen in congenital<unk> 1.<unk> 2<unk> 2 is generally milder than<unk> 1, with generally fewer<unk> 2 people requiring assistive devices than<unk> 1 people.<unk> 2 preferentially affects muscles closer to or on the torso, including the neck flexors, hip flexors, and hip extensors. Muscle pain is prominent in<unk> 2. Heart issues, while still potentially fatal, are less common and severe in<unk> 2 than<unk> 1. Symptoms onset in early to late adulthood. Severe congenital onset, which can occur in<unk> 1, has not been observed in<unk> 2.
Myotonic dystrophy
Prader–Willi syndrome
Becker muscular dystrophy
Myotonia congenita
Muscular dystrophy
Ullrich congenital muscular dystrophy
Madras motor neuron disease
Infantile neuroaxonal dystrophy