Diseases

Spinal and bulbar muscular atrophy

Spinal and bulbar muscular atrophy (SBMA) is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cord.

The condition is associated with mutation of the androgen receptor (AR) gene and is inherited in an X-linked recessive manner. As with many genetic disorders, no cure is known, although research continues. Because of its endocrine manifestations related to the impairment of the AR gene, SBMA can be viewed as a variation of the disorders of the androgen insensitivity syndrome (AIS). It is also related to other neurodegenerative diseases caused by similar mutations, such as Huntington's disease.

This condition is rare with an estimated incidence of 1/40,000 males. Although this condition is not normally fatal eventually 20% of those affected may need a wheelchair

Spinal bulbar motor neuropathy

Kennedy's disease (KD) or X-linked spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutation of the androgen receptor (AR).[1][2] Because of its endocrine manifestations related to the impairment of the AR, it can be viewed as a variation of the disorders of the androgen insensitivity syndrome (AIS). It is also related to other neurodegenerative diseases caused by similar mutations, such as Huntington's disease and the spinocerebellar ataxias. Kennedy's disease is named after W. R. Kennedy, a neurologist who was among the first to describe this disease

Spinal cord neoplasm

Spinal cord neoplasm: A growth (tumor) that arises from the spinal cord. The tumor may be benign or malignant.

Spinal intradural arachnoid cysts

Spinal intradural arachnoid cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord. The type and severity of symptoms is determined by the size and location of the cyst.

Spinal muscular atrophy

Spinal muscular atrophy (SMA), also called autosomal recessive proximal spinal muscular atrophy in order to distinguish it from other conditions with similar name – is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting, often leading to early death.

The disorder is caused by a genetic defect in the SMN1 gene, which encodes SMN, a protein widely expressed in all eukaryotic cells and necessary for survival of motor neurons. Lower levels of the protein results in loss of function of neuronal cells in the anterior horn of the spinal cord and subsequent system-wide muscle wasting (atrophy).

Spinal muscular atrophy manifests in various degrees of severity, which all have in common progressive muscle wasting and mobility impairment. The severity of SMA correlates with the amount of SMN protein. People with Type 1 SMA, the most severe life-threatening form, produce very little SMN protein and do not achieve the ability to sit without support or live beyond 2 years without respiratory support. People with Type 2 and Type 3 produce greater amounts of SMN protein and have less severe, but still life-altering forms of SMA.

Spinal muscular atrophy is an inherited disorder and is passed on in an autosomal recessive manner.

As of 2016, no drugs for SMA have been approved, even as a number of therapeutics remain in late-stage clinical trials.

Spinal muscular atrophy type 2

a genetic disease in which loss of nerve cells in the spinal cord called motor neurons affects the part of the nervous system that controls voluntary muscle movement.

Spinal muscular atrophy type I with congenital bone fractures

Spinal muscular atrophy, type I, with congenital bone fractures: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Bone fractures also occur in newborn infants.

Spinal muscular atrophy with respiratory distress 1

Spinal muscular atrophy with respiratory distress 1: An inherited neuromuscular disease that causes progressive weakness in the arm and chest muscles leading to severe respiratory problems early in life. Sufferers are never able to sit independently and breathing problems progress rapidly with breathing assistance needed within the first five years.

Spinal muscular atrophy- Ryukyuan type

Spinal muscular atrophy, Ryukyuan type: A recessively inherited disorder occurring in males from a Japanese inhabitants of Ryukyu Islands. The disorder is characterized by muscle wasting and weakness that affects the lower legs more than the arms.

Spinal muscular atrophy- type 3

This is the mildest form of child onset SMA. People with Type III will vary greatly. However the prognosis is very good. The person with Type III may show difficulty with walking and/or getting up from a sitting or bent over position & negotiating stairs. Balance can be a problem, causing falls, sometimes assistance in getting up is needed. General muscle weakness has an impact on daily living. An assessment may be helpful to identify where the person needs additional aids or adaptations to enable them to live as independently as possible. Children with SMA have enhanced intelligence and usually attend main stream school.

Spinal shock

Spinal shock was first defined by Whytt in 1750 as a loss of sensation accompanied by motor paralysis with initial loss but gradual recovery of reflexes, following a spinal cord injury (SCI) -- most often a complete transection. Reflexes in the spinal cord caudal to the SCI are depressed (hyporeflexia) or absent (areflexia), while those rostral to the SCI remain unaffected. Note that the 'shock' in spinal shock does not refer to circulatory collapse

Spinocerebellar ataxia 1

Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right. types of Spinocerebellar ataxia. The first ataxia gene was identified in 1993 for a dominantly inherited type. It was called “Spinocerebellar ataxia type 1" (SCA1). Subsequently, as additional dominant genes were found they were called SCA2, SCA3, etc. Usually, the "type" number of SCA refers to the order in which the gene was found. At this time, there are at least 29 different gene mutations which have been found.

Spinocerebellar ataxia 13

Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is cased by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3. There are two known mutations in this gene causative for SCA13. Unlike many other types of SCA, these are not polyglutamine expansions but, rather, point mutations resulting in channels with no current or altered kinetics

Spinocerebellar ataxia 14

Spinocerebellar ataxia 14: A rare genetic disorder (chromosome 19q13.4qter defect) characterized by gait ataxia, tremors and dysarthria (speech disorder). The condition progresses slowly.

Spinocerebellar ataxia 18

Spinocerebellar ataxia 18: A rare genetic disorder (chromosome 7q22-31 defect) characterized by muscle atrophy and sensory loss. The severity of symptoms is variable. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.

Spinocerebellar ataxia 19

Spinocerebellar ataxia 19: A rare genetic disorder (chromosome 1p21-q21 defect) characterized by mild cognitive impairment and myoclonus. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.

Spinocerebellar ataxia 2

Spinocerebellar ataxia 2: A disorder involving degeneration of the brain and spinal cord and causing progressive coordination difficulty and other symptoms. Symptom generally become more severe earlier than in spinocerebellar ataxia 1.

Spinocerebellar ataxia 20

Spinocerebellar ataxia 20: A rare genetic disorder (chromosome 11 defect) characterized by palatal tremor and dysphonia. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.

Spinocerebellar ataxia 21

Spinocerebellar ataxia 21: A rare genetic disorder (chromosome 7p21.3-p15.1 defect) characterized by extrapyramidal features and cognitive impairment. The condition progresses slowly over decades. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.

Spinocerebellar ataxia 23

Spinocerebellar ataxia 23: A rare genetic disorder (chromosome 20p13-12.3 defect) characterized by ataxia, sensory loss and pyramidal signs. It is a slowly progressing condition.

Spinocerebellar ataxia 25

Spinocerebellar ataxia 25: A rare genetic disorder (chromosome 2p15-p21 defect) characterized by sensory neuropathy and damage to the motor control part of the brain (cerebellar atrophy) resulting in ataxia. It is a slow progressing condition.

Spinocerebellar ataxia 26

Spinocerebellar ataxia 26: A rare genetic disorder (chromosome 19p13.3 defect) characterized by slowly progressive ataxia and dysarthria (speech disorder).

Spinocerebellar ataxia 27

Spinocerebellar ataxia 27: A rare genetic disorder (chromosome FGF14; 13q34 defect) characterized by tremors, dyskinesia and psychiatric episodes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.

Spinocerebellar ataxia 28

Spinocerebellar ataxia 27: A rare genetic disorder (chromosome FGF14; 13q34 defect) characterized by tremors, dyskinesia and psychiatric episodes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia type

Spinocerebellar ataxia 3

Machado-Joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. (Ataxia is a general term meaning lack of muscle control.) The disease is characterized by clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some patients have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and/or rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes.

Spinocerebellar ataxia 4

Spinocerebellar ataxia 4: An inherited disorder where degeneration of certain parts of the brain and spinal cord results in symptoms such as ataxia, sensory neuropathy and spastic paraplegia.