progression with symptoms, ranging from very severe to mild 1,2.
[nature.com]
LGMD type 2I (fukutin-related proteinopathy) Variable This is relatively common in northern Europe. There is variable rate of progression.
[patient.info]
Subtypes of LGMD2 LGMD2A is caused by mutations in the calpain 3 gene and is characterised by variable condition onset, progressive proximal weakness and muscle atrophy.
[mdfgauteng.org]
There is variability in presentation and progression.
[ncbi.nlm.nih.gov]
LGMD type 2I (fukutin-related proteinopathy) Variable This is relatively common in northern Europe. There is variable rate of progression.
[patient.info]
Subtypes of LGMD2 LGMD2A is caused by mutations in the calpain 3 gene and is characterised by variable condition onset, progressive proximal weakness and muscle atrophy.
[mdfgauteng.org]
Marked phenotypic variability in progressive diaphyseal dysplasia ( Camurati–Engelmann disease ). Am J Med Genet A 2004;129:235–47. [8].
[journals.lww.com]
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1
[trauma.zaslavsky.com.ua]
Marked phenotypic variability in progressive diaphyseal dysplasia ( Camurati–Engelmann disease ): report of a four-generation pedigree, identification of a mutation in TGFB1
[journals.lww.com]
Diagnosis is made is based on a combination of neuroradiologic and clinical findings : MRI demonstrates variable neocortical atrophy, progressive in time, flattening of the
[tellmegen.cl]
Diagnosis is made is based on a combination of neuroradiologic and clinical findings : MRI demonstrates variable neocortical atrophy, progressive in time, flattening of the
[tellmegen.cl]
Diagnosis is made is based on a combination of neuroradiologic and clinical findings : MRI demonstrates variable neocortical atrophy, progressive in time, flattening of the
[tellmegen.cl]
The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy.
[ncbi.nlm.nih.gov]
Diagnosis is made is based on a combination of neuroradiologic and clinical findings : MRI demonstrates variable neocortical atrophy, progressive in time, flattening of the
[tellmegen.cl]
Diagnosis is made is based on a combination of neuroradiologic and clinical findings : MRI demonstrates variable neocortical atrophy, progressive in time, flattening of the
[tellmegen.cl]
predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve
[orpha.net]
Charcot-Marie-Tooth disease type 2O Disease definition A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive
[orpha.net]
[…] brain and spinal cord calcification, growth retardation, psychomotor deterioration, deafness, microcytic hypochromic anemia, and variable distal renal tubular acidosis.
[orpha.net]
[…] calcification-deafness-tubular acidosis-anemia syndrome Disease definition A rare, genetic, syndromic, neurological disorder characterized by early infantile-onset of the progressive
[orpha.net]
Most patients develop subtle extrapyramidal motor signs that progress to a debilitating disorder of involuntary movement with variable features, including chorea, tremor,
[malacards.org]
Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.
[orpha.net]
The muscle weakness does not progress, but most patients develop progressive atypical involuntary muscle contractions that influence gait, movement, and posture (extrapyramidal
[malacards.org]
Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms.
[malacards.org]
In progressive cone dystrophy, the associated symptoms become worse over time. The rate of progression and age of onset can be very variable.
[centogene.com]
Progressive cone dystrophy usually develops in late childhood or early during adulthood.
[centogene.com]
1q25.3 Variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short
[en.wikipedia.org]
1p34.1 Hypotonia, apneic episodes, seizures, vanishing testis[9][10] PCH8 614961 CHMP1A 16q24.3 Severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable
[en.wikipedia.org]
[…] visual defects[11] PCH9 615809 AMPD2 1p13.3 Severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain
[en.wikipedia.org]
[…] enlarge at a variable rate and then become more or less stable.2,6,8 Occasionally, the lesions start11 or persist13 as small violaceous papules.
[cda-adc.ca]
Skin at any site can be affected, but there is a predilection for the neck, shoulder and thorax region.2,4-7,10-13 Lesions have been reported as macules or plaques, which progressively
[cda-adc.ca]
The age of onset and morbidity are highly variable and progression is unpredictable.
[orpha.net]
progression with symptoms, ranging from very severe to mild 1,2.
[nature.com]
LGMD type 2I (fukutin-related proteinopathy) Variable This is relatively common in northern Europe. There is variable rate of progression.
[patient.info]
[…] age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures.
[orpha.net]
1q25.3 Variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short
[en.wikipedia.org]
1p34.1 Hypotonia, apneic episodes, seizures, vanishing testis[9][10] PCH8 614961 CHMP1A 16q24.3 Severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable
[en.wikipedia.org]
[…] visual defects[11] PCH9 615809 AMPD2 1p13.3 Severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain
[en.wikipedia.org]
French Erythrokératodermie variable de Mendés English ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC Last Update: 2014-12-09 Usage Frequency: 2 Quality: Warning: This alignment
[mymemory.translated.net]
Erythrokeratoderma variabilis and variable circinate erythrokeratodermia. Arch Dermatol 1970; 101:68-73. Ruiz-Maldonado R, Tamayo L.
[medigraphic.com]
French Erythrokératodermie variable de Mendés English Erythrokeratodermia, Progressive Symmetric Last Update: 2014-12-09 Usage Frequency: 2 Quality: Warning: This alignment
[mymemory.translated.net]
[…] severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle
[orpha.net]
Adult-onset CMT4J can present with a more variable disease course. No prospective natural history study for CMT4J has been reported.
[clinicaltrials.gov]
Symptoms and age of onset are variable. Some people have a classic presentation, while others have slowly progressing symptoms.
[charcot-marie-toothnews.com]
progression with symptoms, ranging from very severe to mild 1,2.
[nature.com]
LGMD type 2I (fukutin-related proteinopathy) Variable This is relatively common in northern Europe. There is variable rate of progression.
[patient.info]
Subtypes of LGMD2 LGMD2A is caused by mutations in the calpain 3 gene and is characterised by variable condition onset, progressive proximal weakness and muscle atrophy.
[mdfgauteng.org]
progression with symptoms, ranging from very severe to mild 1,2.
[nature.com]
LGMD type 2I (fukutin-related proteinopathy) Variable This is relatively common in northern Europe. There is variable rate of progression.
[patient.info]
Subtypes of LGMD2 LGMD2A is caused by mutations in the calpain 3 gene and is characterised by variable condition onset, progressive proximal weakness and muscle atrophy.
[mdfgauteng.org]
progressive neurologic disease Unknown From Wortmann et al [2013a].
[ncbi.nlm.nih.gov]
[…] spasticity, cerebellar ataxia, and cognitive deterioration are variably seen in affected children and more commonly at later stages.
[ncbi.nlm.nih.gov]
[…] cerebellar ataxia, Ssmall atrophic testes, cryptorchidism, growth failure, anemia, steatosis hepatitis AR Unknown NOS 3-MGA-uria 3-MGCA type IV (3-MGCA-4) Variable, mostly
[ncbi.nlm.nih.gov]
In progressive cone dystrophy, the associated symptoms become worse over time. The rate of progression and age of onset can be very variable.
[centogene.com]
(Val200Glu) variant present with early central RPE atrophy that advances peripherally on disease progression, with little intrafamilial variability.57 58 In contrast, clinical
[bjo.bmj.com]
By contrast, that associated with the P50L mutation demonstrates variable expressivity.
[jamanetwork.com]
progression with symptoms, ranging from very severe to mild 1,2.
[nature.com]
LGMD type 2I (fukutin-related proteinopathy) Variable This is relatively common in northern Europe. There is variable rate of progression.
[patient.info]
Subtypes of LGMD2 LGMD2A is caused by mutations in the calpain 3 gene and is characterised by variable condition onset, progressive proximal weakness and muscle atrophy.
[mdfgauteng.org]
progression with symptoms, ranging from very severe to mild 1,2.
[nature.com]
LGMD type 2I (fukutin-related proteinopathy) Variable This is relatively common in northern Europe. There is variable rate of progression.
[patient.info]
Subtypes of LGMD2 LGMD2A is caused by mutations in the calpain 3 gene and is characterised by variable condition onset, progressive proximal weakness and muscle atrophy.
[mdfgauteng.org]
In progressive cone dystrophy, the associated symptoms become worse over time. The rate of progression and age of onset can be very variable.
[centogene.com]
By contrast, that associated with the P50L mutation demonstrates variable expressivity.
[jamanetwork.com]
Progressive cone dystrophy usually develops in late childhood or early during adulthood.
[centogene.com]
Forty-nine patients (46%) maintained stable renal function, 21 patients (20%) had a progressive deterioration of renal function and an additional 36 patients (34%) progressed
[ncbi.nlm.nih.gov]
By multivariate analysis the following baseline variables (i.e. variables measured at the time of renal biopsy) were associated with the loss of renal function: 1.
[ncbi.nlm.nih.gov]
