Tag Archives: Degenerative

Spinal and bulbar muscular atrophy, Kennedy disease

Synonyms: Spinal and bulbar muscular atrophy (SBMA), Kennedy disease Diagnosis: This is a clinical diagnosis supported by NCS/EMG Clinical features: Lower motor neuron (LMN) disease Muscle atrophy, weakness, contraction fasciculations, and bulbar involvement Gynecomastia, testicular failure Genetics: Androgen receptor (AR) gene, expansion of CAG trinucleotide repeat Related articles: Approache to weakness, nerve diseases, Amyotrophic lateral … Continue reading Spinal and bulbar muscular atrophy, Kennedy disease

Primary Lateral Sclerosis

Diagnosis: Clinical features plus unrevealing investigations (NCS/EMG, MRI, lab tests) for other causes. This  is a diagnosis of exclusion.   Diagnostic categories of PLS (Gordon et al.) Autopsy-proven PLS Clinically diagnosed PLS with degeneration in motor cortex and corticospinal tracts, no loss of motor neurons, no gliosis in anterior horn cells, and no Bunina bodies … Continue reading Primary Lateral Sclerosis

Posterior Cortical Atrophy

Synonyms: Visual variant of Alzheimer’s disease, Benson’s syndrome   Clinical features: Features of Gerstmann’s syndrome (Alexia, Acalculia, Agraphia, Left-right agnosia/disorientation, Finger agnosia) Features of Balint’s syndrome (simultanagnosia, oculomotor apraxia, optic ataxia), Apperceptive visual agnosia, dressing apraxia, environmental disorientation, hemianopia, transcortical sensory aphasia Less commonly: memory or language disturbances Localises to visual association cortex bilaterally, usually … Continue reading Posterior Cortical Atrophy

Diffuse Lewy Body Disease

Synonyms: Dementia with Lewy bodies, a.k.a. Lewy body dementia a.k.a. Diffuse Lewy body disease DLBD, formerly Lewy body varient of Alzheimers: Clinical features: Dementia: deficits in attention, executive function, visuospatial ability and later on in memory. This is a subcortical dementia i.e. cortical features are spared early in the disease Core features: Dementia that develops … Continue reading Diffuse Lewy Body Disease

Amyotrophic Lateral Sclerosis

Synonyms: Lou Gehrig disease Clinical features: Features of upper motor neuron (UMN) disease (including increased reflexes in wasted limb) & lower motor neuron (LMN) disease +/-pseudobular palsy +/-cramps Weakness, fasciculations No sensory disturbance, no bowel or bladder dysfunction Diagnostic criteria: El Escorial criteria, also known as, World Federation of Neurology criteria (used more for research) … Continue reading Amyotrophic Lateral Sclerosis

Parkinson's Disease

Synonyms: Paralysis agitans: Clinical features: Triad of: Bradykinesia Rigidity. Tremor: this is not essential for the diagnosis Important characteristics: asymmetry, upper body is affected first, fluctuation in severity, postural instability later on BP & postural BP: to exclude Shy-Dragger syndrome Other clinical points: Re-emergent tremor: on testing for postural tremour, initially there is no tremour … Continue reading Parkinson's Disease

Alzheimer Disease

Clinical features: Clinical features in general: Episodic memory loss: This is usually the first symptom  to develop. It preceeds the dysfunction in activities of daily living. In most cases Alzeimer disease develops from amnestic mild cognitive impairment. Later on other cognitive domains are involved this leads to: Executive dysfunction Agnosia Apraxia Aphasia Neuropsychiatric symptoms: depression, … Continue reading Alzheimer Disease