Spasticity, and Alopecia

Diseases related with Spasticity and Alopecia

In the following list you will find some of the most common rare diseases related to Spasticity and Alopecia that can help you solving undiagnosed cases.


Top matches:

Low match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A


Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A Is also known as ichthyosis, lamellar, 2, formerly|ichthyosis congenita iib|li2, formerly|icr2b

Related symptoms:

  • Flexion contracture
  • Alopecia
  • Hyperkeratosis
  • Hepatosplenomegaly
  • Abnormality of the nervous system


SOURCES: OMIM MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10


Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Low match CARASIL


CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

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Other less relevant matches:

Low match LAURENCE-MOON SYNDROME; LNMS


Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (OMIM ), including chorioretinopathy and pituitary dysfunction, but with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia and without trichomegaly. Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, {209900}) (summary by Hufnagel et al., 2015).Oliver-McFarlane syndrome is an allelic disorder.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LAURENCE-MOON SYNDROME; LNMS

Low match AICARDI-GOUTIERES SYNDROME 7; AGS7


Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Low match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Low match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Low match HOLOCARBOXYLASE SYNTHETASE DEFICIENCY


Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Low match 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D


3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Top 5 symptoms//phenotypes associated to Spasticity and Alopecia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Spasticity and Alopecia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Spastic paraplegia Paraplegia Nystagmus Failure to thrive Microcephaly Sparse hair Hypoglycemia Thrombocytopenia Lethargy Encephalopathy Cerebral atrophy Short stature Hypertonia Nail dystrophy Muscular hypotonia

Rare Symptoms - Less than 30% cases


Coma Weight loss Intrauterine growth retardation Alopecia areata Metabolic acidosis Hyperreflexia Hepatomegaly Feeding difficulties Acidosis Cognitive impairment Delayed speech and language development Vomiting Choroideremia Pigmentary retinopathy Long eyelashes Absent speech Flexion contracture Hyperammonemia Tetraplegia Hypoventilation Peripheral neuropathy Rod-cone dystrophy Hypogonadism Ventriculomegaly Progressive neurologic deterioration Spastic tetraplegia Thick eyebrow Micropenis Tetraparesis Gait disturbance Dysphagia Skin rash Irritability Abnormality of the cerebral white matter Growth hormone deficiency Inflammatory abnormality of the skin Organic aciduria Retinal degeneration Optic atrophy Fever Diarrhea Microphthalmia Pneumonia Agenesis of corpus callosum Motor delay Long eyebrows Strabismus Sparse scalp hair Hypothyroidism Pallor Distal muscle weakness Small for gestational age Delayed puberty Peripheral axonal neuropathy Distal amyotrophy Progressive cerebellar ataxia Hypoplasia of penis Clumsiness Neoplasm Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Central heterochromia Hyperactivity Stomatitis Autism Depressivity Anorexia Tachypnea Hyperventilation Keratoconjunctivitis Desquamation of skin soon after birth Congenital lactic acidosis Perioral eczema Skeletal muscle atrophy Macrocephaly Fatigue Myopathy Congestive heart failure Dilatation Elevated hepatic transaminase Aciduria Hepatic steatosis Cyanosis Dehydration Opisthotonus Ketoacidosis Ketonuria Seborrheic dermatitis Decreased plasma carnitine Hyperglycinuria Neutrophilia Encephalomalacia Necrotizing encephalopathy Propionyl-CoA carboxylase deficiency Eczema Lactic acidosis Autistic behavior Scoliosis Coloboma Iris coloboma Febrile seizures Aspiration Leukopenia Delayed gross motor development Breast carcinoma Aspiration pneumonia Diffuse cerebral atrophy Severe short stature Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Uraciluria Low-set ears Nausea and vomiting Midface retrusion Constipation Cerebellar hypoplasia Carious teeth Abnormality of skin pigmentation Pancytopenia Intellectual disability, profound Fine hair Bone marrow hypocellularity CNS hypomyelination Oral leukoplakia Respiratory distress Feeding difficulties in infancy Hypotrichosis Gait ataxia Abnormality of eye movement Obesity Hypertension Purpura Psoriasiform dermatitis Adrenal insufficiency Autoimmune thrombocytopenia Vitiligo Chronic sinusitis Alopecia totalis Adrenocorticotropic hormone deficiency Central adrenal insufficiency Trachyonychia Pain Dysarthria Sinusitis Babinski sign Dementia Osteoporosis Rigidity Mental deterioration Abnormal pyramidal sign Stroke Ophthalmoplegia Dysmetria Unsteady gait Neurodegeneration Meningitis Bronchiectasis Memory impairment Anhidrosis Hyperkeratosis Hepatosplenomegaly Abnormality of the nervous system Erythema Scarring Ichthyosis Palmoplantar keratoderma Ectropion Clubbing Erythroderma Absent eyebrow Congenital ichthyosiform erythroderma Decreased antibody level in blood Abnormality of abdomen morphology Congenital nonbullous ichthyosiform erythroderma Subungual hyperkeratosis Leukonychia Eclabion Neuritis Generalized ichthyosis Immunodeficiency Recurrent infections Recurrent respiratory infections Asthma Urinary incontinence Peripheral demyelination Cerebellar atrophy Vasculitis Hypopituitarism Short 1st metacarpal Dystonia Splenomegaly Muscular hypotonia of the trunk Developmental regression Lymphadenopathy Brain atrophy Nephrotic syndrome Lower limb spasticity Progressive microcephaly Spastic tetraparesis Abnormality of the hand Toe walking Increased antibody level in blood Pericardial effusion Progressive spastic paraplegia Basal ganglia calcification Atopic dermatitis Serositis Chilblains Muscle weakness Cryptorchidism Frontal bossing External genital hypoplasia Scrotal hypoplasia Abnormality of extrapyramidal motor function Stroke-like episode Hemiparesis Diplopia Spastic gait Leukoencephalopathy Slurred speech Back pain Apathy Emotional lability Urinary urgency Gaze-evoked nystagmus Progressive encephalopathy Spastic ataxia Short metacarpal Low back pain Arteriosclerosis Pseudobulbar paralysis Diffuse white matter abnormalities Knee pain Pseudobulbar signs Diffuse leukoencephalopathy Diffuse demyelination of the cerebral white matter Arteriosclerosis of small cerebral arteries Polydactyly Retinopathy Acute hyperammonemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Hyperhidrosis, related diseases and genetic alterations Macrocephaly and Postaxial polydactyly, related diseases and genetic alterations Tremor and Agenesis of corpus callosum, related diseases and genetic alterations Hydrocephalus and Progressive cerebellar ataxia, related diseases and genetic alterations

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