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SMA 4 (Adult onset) Adulthood This denotes the adult-onset form, sometimes also classified as a late-onset SMA type 3. It occurs in approx. 5% of patients and usually manifests in the third or fourth decade of life. The symptoms consist of gradual weakening of leg muscles, which frequently makes it necessary for the patient to use walking aids.
Autosomal recessive proximal spinal muscular atrophy, responsible for 90-95% of cases and usually called simply spinal muscular atrophy (SMA) – a disorder associated with a genetic mutation on the SMN1 gene on chromosome 5q (locus 5q13), diagnosed predominantly in young children and in its most severe form being the most common genetic cause ...
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
List of medical symptoms. Medical symptoms refer to the manifestations or indications of a disease or condition, perceived and complained about by the patient. [1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals.
The types of pain reported in ISMAD cases include: Abdominal pain: This is the most common symptom, reported in 55.8% of cases. [2] The pain can be sharp, dull, constant, or intermittent. [3] Epigastric pain: This pain is experienced by 22.7% of patients, [2] in the upper middle of the abdomen, just below the ribs. [3]
The first symptoms include muscle cramps and muscle twitches affecting the upper and lower limbs. They appear usually after age of 40. The disease is slowly progressive with adult onset and results in weakness and mild muscle atrophy. [1] [3] The disease does not affect life expectancy. [1]
X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting .
Anemia of chronic disease: AODM Adult onset diabetes mellitus: AOS Apraxia of speech: APA Aldosterone-producing adenoma: APS Antiphospholipid syndrome: ARBD Alcohol-related birth defects: ARD Adult Refsum disease: ARDS Acute respiratory distress syndrome: ARND Alcohol-related neurodevelopmental disorder: ARM Anorectal malformation: AS ...