An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.

An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

Paget disease of bone is a disorder that causes unusual growth in one or more bones. Affected bones may be weakened, misshapen, and easily broken (fractured).\n\nPaget disease of bone is typically diagnosed in middle age or later. The condition usually affects only one bone or just a few bones and does not spread from one bone to another. Any bones can be affected, although the disease most commonly affects bones in the spine, pelvis, skull, or legs.\n\nApproximately 70 percent of people with Paget disease of bone do not experience any signs or symptoms related to the bone abnormalities. In these individuals, the disease is often diagnosed unexpectedly by x-rays or laboratory tests that are done for other reasons. Pain is the most common symptom reported by people with Paget disease of bone. The affected bones may themselves be painful, or pain may be caused by arthritis in nearby joints. Arthritis occurs when the abnormal bones, particularly weight-bearing bones in the legs, cause extra wear and tear on the joints. Arthritis in the knees and hips is common.\n\nOther signs and symptoms of Paget disease of bone depend on the particular bones that are affected. If the disease affects the bones of the skull, affected individuals may have an enlarged head, hearing loss, headaches, and dizziness. When the condition affects bones in the spine(vertebrae), affected individuals may have an abnormal curvature of the spine or, less commonly, a narrowing of the spinal canal that can put pressure on the spinal cord (spinal stenosis). Spinal stenosis can lead to pain, tingling, and weakness in the legs. When the condition affects the leg bones, these bones may bow and fracture, which can interfere with the ability to walk. \n\nSome people with Paget disease of the bone have heart or kidney problems. Bone cancer (osteosarcoma) is a rare complication, affecting less than 1 percent of individuals with this condition.\n\nA form of Paget disease that typically develops in childhood, known as juvenile Paget disease, tends to affect multiple bones and has a different pattern of inheritance than Paget disease of bone. 

A lack of strength of the proximal muscles.

Reduced ability to climb stairs.

Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).

Abnormal protrusion of the scapula away from the surface of the back.

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Weakness of all four limbs.

In general, frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of Tauopathies Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy. Other neurodegenerative disorders associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104). Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also collectively been termed 'FTDP17' (Lee et al., 2001). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar Degeneration Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTD2 (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTDALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS1 (105550), caused by mutation in the C9ORF72 gene (614260) on 9p21. In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).

Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.

The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.

Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.

A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.

The term gait disturbance can refer to any disruption of the ability to walk.

Reduced strength and weakness of the muscles of the arms and legs.

An abnormal accentuation of the inward curvature of the spine in the lumbar region.

Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.

An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.

Lack of strength of the proximal muscles that becomes progressively more severe.

Inability to walk in a person who previous had the ability to walk.

Amyotrophy affecting the muscles of the shoulder girdle.

Muscular atrophy affecting muscles in the distal portions of the extremities.

Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.

An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.

Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.

Atrophy of the temporal cortex.

Atrophy of the frontal cortex.

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.

Partial or complete wasting (loss) of brain tissue that was once present.