Evaluation of a child with torticollis begins with history taking to determine circumstances surrounding birth and any possibility of trauma or associated symptoms. Physical examination reveals decreased rotation and bending to the side opposite from the affected muscle. Some say that congenital cases more often involve the right side, but there is not complete agreement about this in published studies. Evaluation should include a thorough neurologic examination, and the possibility of associated conditions such as developmental dysplasia of the hip and clubfoot should be examined. Radiographs of the cervical spine should be obtained to rule out obvious bony abnormality, and MRI should be considered if there is concern about structural problems or other conditions.

Ultrasonography is another diagnostic tool that has high frequency sound waves used to visualize the muscle tissue. A colour histogram can also be used to determine cross sectional area and thickness of the muscle.

Evaluation by an optometrist or an ophthalmologist should be considered in children to ensure that the torticollis is not caused by vision problems (IV cranial nerve , nystagmus-associated "null position," etc.).

Differential diagnosis for torticollis involves

- Cranial nerve IV palsy

- Spasmus nutans

- Sandifer syndrome

- Myasthenia gravis

Cervical dystonia appearing in adulthood has been believed to be idiopathic in nature, as specific imaging techniques most often find no specific cause.

Electrophysiological evidence of denervation with intact motor and sensory nerve conduction findings must be made by using nerve conduction studies, usually in conjunction with EMG. The presence of polyphasic potentials and fibrillation at rest are characteristic of congenital dSMA.

The following are useful in diagnosis:

- Nerve conduction studies (NCS), to test for denervation

- Electromyography (EMG), also to detect denervation

- X-ray, to look for bone abnormalities

- Magnetic resonance imaging (MRI)

- Skeletal muscle biopsy examination

- Serum creatine kinase (CK) level in blood, usually elevated in affected individuals

- Pulmonary function test

Initially, the condition is treated with physical therapies, such as stretching to release tightness, strengthening exercises to improve muscular balance, and handling to stimulate symmetry. A TOT collar is sometimes applied. Early initiation of treatment is very important for full recovery and to decrease chance of relapse.

A thorough medical history and physical examination, including a neurological examination, are the first steps in making a diagnosis. This alone may be sufficient to diagnose Bell's Palsy, in the absence of other findings. Additional investigations may be pursued, including blood tests such as ESR for inflammation, and blood sugar levels for diabetes. If other specific causes, such as sarcoidosis or Lyme disease are suspected, specific tests such as angiotensin converting enzyme levels, chest x-ray or Lyme titer may be pursued. If there is a history of trauma, or a tumour is suspected, a CT scan may be used.

Research on prenatal diagnosis has shown that a diagnosis can be made prenatally in approximately 50% of fetuses presenting arthrogryposis. It could be found during routine ultrasound scanning showing a lack of mobility and abnormal position of the foetus. Nowadays there are more options for visualization of details and structures can be seen well, like the use of 4D ultrasound. In clinic a child can be diagnosed with arthrogryposis with physical examination, confirmed by ultrasound, , or muscle biopsy.

Congenital dSMA has a relatively stable disease course, with disability mainly attributed to increased contractures rather than loss of muscle strength. Individuals frequently use crutches, knee, ankle, and/or foot orthoses, or wheelchairs. Orthopaedic surgery can be an option for some patients with severely impaired movement. Physical therapy and occupational therapy can help prevent further contractures from occurring, though they do not reverse the effects of preexisting ones. Some literature suggests the use of electrical stimulation or botulinum toxin to halt the progression of contractures.

Facial nerve paralysis may be divided into supranuclear and infranuclear lesions.

In terms of the diagnosis of Ullrich congenital muscular dystrophy upon inspection follicular hyperkeratosis, may be a dermatological indicator, additionally also serum creatine kinase may be mildly above normal. Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are:

The function of the spinal accessory nerve is measured in the neurological examination. How the examination is administered varies by practitioner, but it frequently involves three components: inspection, range of motion testing, and strength testing.

During inspection, the examiner observes the sternocleidomastoid and trapezius muscles, looking for signs of lower motor neuron disease, such as muscle atrophy and fasciculation. A winged scapula may also be suggestive of abnormal spinal accessory nerve function, as described above.

In assessing range of motion, the examiner observes while the patient tilts and rotates the head, shrugs both shoulders, and abducts both arms. A winged scapula due to spinal accessory nerve damage will often be exaggerated on arm abduction.

Strength testing is similar to range of motion testing, except that the patient performs the actions against the examiner's resistance. The examiner measures sternocleidomastoid muscle function by asking the patient to turn his or her head against resistance. Simultaneously, the examiner observes the action of the contralateral sternocleidomastoid muscle. For example, if the patient turns his or her head to the right, the left sternocleidomastoid muscle normally will tighten.

To assess the strength of the trapezius muscle, the examiner asks the patient to shrug his or her shoulders against resistance. In patients with damage to the spinal accessory nerve, shoulder elevation will be diminished, and the patient will be incapable of raising the shoulders against the examiner's resistance.

Diagnosis is based on clinical findings.

'Clinical findings'

- Profound congenital sensorineural deafness is present

- CT scan or MRI of the inner ear shows no recognizable structure in the inner ear.

- As michel's aplasia is associated with LAMM syndrome there will be Microtia and microdontia present(small sized teeth).

Molecular genetic Testing

1. "FGF3" is the only gene, whose mutation can cause congenital deafness with Michel's aplasia, microdontia and microtia

Carrier testing for at-risk relatives requires identification of mutations which are responsible for occurrence of disease in the family.

Many other surgeries are also able to improve function in joints of arthrogryposis patients. These surgeries usually exist out of tendon transfers and skin flap movements, adjusted to the individual.

Electrodiagnostic testing (also called electrophysiologic) includes nerve conduction studies which involves stimulating a peripheral motor or sensory nerve and recording the response, and needle electromyography, where a thin needle or pin-like electrode is inserted into the muscle tissue to look for abnormal electrical activity.

Electrodiagnostic testing can help distinguish myopathies from neuropathies, which can help determine the course of further work-up. Most of the electrodiagnostic abnormalities seen in myopathies are also seen in neuropathies (nerve disorders). Electrodiagnostic abnormalities common to myopathies and neuropathies include; abnormal spontaneous activity (e.g., fibrillations, positive sharp waves, etc.) on needle EMG and, small amplitudes of the motor responses compound muscle action potential, or CMAP during nerve conduction studies. Many neuropathies, however, cause abnormalities of sensory nerve studies, whereas myopathies involve only the muscle, with normal sensory nerves. The most important factor distinguishing a myopathy from a neuropathy on needle EMG is the careful analysis of the motor unit action potential (MUAP) size, shape, and recruitment pattern.

There is substantial overlap between the electrodiagnostic findings the various types of myopathy. Thus, electrodiagnostic testing can help distinguish neuropathy from myopathy, but is not effective at distinguishing which specific myopathy is present, here muscle biopsy and perhaps subsequent genetic testing are required.

The subtypes of congenital muscular dystrophy have been established through variations in multiple genes. It should be noted that phenotype, as well as, genotype classifications are used to establish the subtypes, in some literature.

One finds that congenital muscular dystrophies can be either autosomal dominant or autosomal recessive in terms of the inheritance pattern, though the latter is much more common

Individuals who suffer from congenital muscular dystrophy fall into one of the following "types":

For the diagnosis of congenital muscular dystrophy, the following tests/exams are done:

- Lab study (CK levels)

- MRI (of muscle, and/or brain)

- EMG

- Genetic testing

There are several options of treatment when iatrogenic (i.e., caused by the surgeon) spinal accessory nerve damage is noted during surgery. For example, during a functional neck dissection that injures the spinal accessory nerve, injury prompts the surgeon to cautiously preserve branches of C2, C3, and C4 spinal nerves that provide supplemental innervation to the trapezius muscle. Alternatively, or in addition to intraoperative procedures, postoperative procedures can also help in recovering the function of a damaged spinal accessory nerve. For example, the Eden-Lange procedure, in which remaining functional shoulder muscles are surgically repositioned, may be useful for treating trapezius muscle palsy.

Spasmodic torticollis is a form of focal dystonia, a neuromuscular disorder that consists of sustained muscle contractions causing repetitive and twisting movements and abnormal postures in a single body region. There are two main ways to categorize spasmodic torticollis: age of onset, and cause. The disorder is categorized as early onset if the patient is diagnosed before the age of 27, and late onset thereafter. The causes are categorized as either primary (idiopathic) or secondary (symptomatic). Spasmodic torticollis can be further categorized by the direction and rotation of head movement.

There are rarely any specific tests for the congenital myopathies except for muscle biopsy. Tests can be run to check creatine kinase in the blood, which is often normal or mildly elevated in congenital myopathies. Electromyography can be run to check the electrical activity of the muscle. Diagnosis heavily relies on muscle pathology, where a muscle biopsy is visualised on the cellular level. Diagnosis usually relies on this method, as creatine kinase levels and electromyography can be unreliable and non-specific. Since congenital myopathies are genetic, there have been advancements in prenatal screenings.

In terms of diagnosis of Fukuyama congenital muscular dystrophy, serum creatine kinase concentration and muscle biopsies can be obtained to help determine if the individual has FMCD. FKTN molecular genetic testing is used to determine a mutation in the FKTN gene after a serum creatine kinase concentration, muscle biopsies, and/or MRI imaging have presented abnormalities indicative of FCMD, the presence of the symptoms indicates Fukuyama congenital muscular dystrophy. The available genetic test include:

- Linkage analysis

- Deletion analysis

- Sequence analysis - exons

- Sequence analysis - entire coding region

For most cases the diagnosis for congenital amputation is not made until the infant is born. One procedure that is helpful in determining this condition in an infant is an ultrasound examination of a fetus when still in the mother's abdomen as it can reveal the absence of a limb. However, since ultrasounds are routine they may not pick up all the signs of some of the more subtle birth defects.

The most popular method of treatment for congenital amputation is having the child be fit for a prosthesis which can lead to normal development, so the muscles don't atrophy. If there is congenital amputation of the fingers, plastic surgery can be performed by using the big toe or second toes in place of the missing fingers of the hand.

In rare cases of amniotic banding syndrome, if diagnosed "in utero", fetal surgery may be considered to save a limb which is in danger of amputation.

On examination of muscle biopsy material, the nuclear material is located predominantly in the center of the muscle cells, and is described as having any "myotubular" or "centronuclear" appearance. In terms of describing the muscle biopsy itself, "myotubular" or "centronuclear” are almost synonymous, and both terms point to the similar cellular-appearance among MTM and CNM. Thus, pathologists and treating physicians use those terms almost interchangeably, although researchers and clinicians are increasingly distinguishing between those phrases.

In general, a clinical myopathy and a muscle biopsy showing a centronuclear (nucleus in the center of the muscle cell) appearance would indicate a centronuclear myopathy (CNM). The most commonly diagnosed CNM is myotubular myopathy (MTM). However, muscle biopsy analysis alone cannot reliably distinguish myotubular myopathy from other forms of centronuclear myopathies, and thus genetic testing is required.

Diagnostic workup is often coordinated by a treating neurologist. In the United States, care is often coordinated through clinics affiliated with the Muscular Dystrophy Association.

Spasmodic torticollis is one of the most common forms of dystonia seen in neurology clinics, occurring in approximately 0.390% of the United States population in 2007 (390 per 100,000). Worldwide, it has been reported that the incidence rate of spasmodic torticollis is at least 1.2 per 100,000 person years, and a prevalence rate of 57 per 1 million.

The exact prevalence of the disorder is not known; several family and population studies show that as many as 25% of cervical dystonia patients have relatives that are undiagnosed. Studies have shown that spasmodic torticollis is not diagnosed immediately; many patients are diagnosed well after a year of seeking medical attention. A survey of 59 patients diagnosed with spasmodic torticollis show that 43% of the patients visited at least four physicians before the diagnosis was made.

There is a higher prevalence of spasmodic torticollis in females; females are 1.5 times more likely to develop spasmodic torticollis than males. The prevalence rate of spasmodic torticollis also increases with age, most patients show symptoms from ages 50–69. The average onset age of spasmodic torticollis is 41.

Jugular foramen syndrome, or Vernet's syndrome is characterized by the paresis of 9th–11th (with or without 12th) cranial nerves together.

Neurotoxin may act on the neuromuscular junction either post synaptically or presynaptically as there are several different forms of toxins that the NMJ is sensitive to.(reference 14) Common mechanisms of action include blockage of acetylcholine release at the synapse thus causing the NMJ to become abnormal in function.(reference 12)

Studies suggest that prenatal care for mothers during their pregnancies can prevent congenital amputation. Knowing environmental and genetic risks is also important. Heavy exposure to chemicals, smoking, alcohol, poor diet, or engaging in any other teratogenic activities while pregnant can increase the risk of having a child born with a congenital amputation. Folic acid is a multivitamin that has been found to reduce birth defects.

Pathology is insertional tendinopathy of the medius and tendons and enlargement of the associated bursa.

Gluteals remain inactive in a seated position. Movements that require muscles become more difficult; stress is put on the spine.