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Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. [1]
When it comes to muscular diseases, most of us have heard of especially common ones like muscular dystrophy and Lou Gehrig's disease.But one of the rarest muscular disorders is also one of the ...
This is performed by testing for proximal and distal muscle strength, as well as testing for any signs of neurogenic symptoms such as impaired sensation, deep tendon reflexes, and atrophy. [ 1 ] If needed, more advanced equipment can be used to help determine whether a patient has ANIM.
This usually starts with the observation of bulk, possible atrophy or loss of muscle tone. Neuromuscular disease can also be diagnosed by various blood tests and using electrodiagnostic medicine tests [ 23 ] including electromyography [ 24 ] (measuring electrical activity in muscles) and nerve conduction studies . [ 25 ]
Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII (dHMN8), is a hereditary medical condition characterized by muscle wasting (), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle.
Whole-person specialty care, a model where a comprehensive care team works together to coordinate personalized and individualized treatment, is offering renewed hope for patients.
Cerebral atrophy; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome; Cerebral gigantism; Cerebral palsy; Cerebral vasculitis; Cerebrospinal fluid leak; Cervical spinal stenosis; Charcot–Marie–Tooth disease; Chiari malformation; Chorea
(D) Advanced thenar muscle atrophy. [8] Signs and symptoms depend on the specific disease, but motor neuron diseases typically manifest as a group of movement-related symptoms. [6] They come on slowly, and worsen over the course of more than three months. Various patterns of muscle weakness are seen, and muscle cramps and spasms may occur.