Abnormal facial shape, and Distal muscle weakness

Diseases related with Abnormal facial shape and Distal muscle weakness

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Distal muscle weakness that can help you solving undiagnosed cases.


Top matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55


Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55 Is also known as spg55

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Low match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Low match NEMALINE MYOPATHY 4; NEM4


Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 4; NEM4

Low match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Low match INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE


INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

Low match SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Low match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Low match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Distal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormal facial shape and Distal muscle weakness. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Myopathy

Uncommon Symptoms - Between 30% and 50% cases


Respiratory insufficiency Facial palsy Global developmental delay Waddling gait Generalized muscle weakness Proximal muscle weakness Talipes equinovarus Flexion contracture Kyphosis Hyperlordosis Pectus excavatum Frequent falls Myopathic facies Facial diplegia Delayed speech and language development Type 1 muscle fiber predominance Pes cavus Skeletal muscle atrophy Difficulty walking Hypertonia Intellectual disability, mild Distal sensory impairment Neck muscle weakness Sensory impairment Ataxia Increased variability in muscle fiber diameter EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Narrow face Progressive muscle weakness Failure to thrive Decreased fetal movement Long face Falls Nemaline bodies Retrognathia Muscular hypotonia Hyperreflexia Peripheral neuropathy Dysphagia Cognitive impairment Respiratory distress Congestive heart failure Arthrogryposis multiplex congenita Hearing impairment Gowers sign Feeding difficulties in infancy Feeding difficulties Ptosis Congenital contracture Kyphoscoliosis Hypoventilation Areflexia Scapular winging Neonatal hypotonia

Rare Symptoms - Less than 30% cases


Cerebellar atrophy Mandibular prognathia Axial muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Neck flexor weakness Micrognathia Infantile muscular hypotonia Cerebellar hypoplasia Limb muscle weakness Gait ataxia Dysmetria Tremor Slender build Exertional dyspnea Ophthalmoparesis Short stature Pectus carinatum Growth delay Bilateral ptosis Protruding ear Knee flexion contracture Dyspnea Easy fatigability Cardiomyopathy Dysarthria Microcephaly Centrally nucleated skeletal muscle fibers Difficulty running Difficulty climbing stairs Inability to walk Respiratory failure Foot dorsiflexor weakness Peripheral axonal neuropathy Ophthalmoplegia Depressed nasal bridge Hypoplasia of the corpus callosum Optic atrophy Sensorineural hearing impairment Spasticity Progressive distal muscle weakness Lower limb muscle weakness Intention tremor Pulmonary arterial hypertension Limb ataxia Progressive microcephaly Sensorimotor neuropathy Proximal placement of thumb Steatorrhea Shawl scrotum Dysdiadochokinesis Schizophrenia Pancreatic fibrosis Primary amenorrhea Truncal ataxia Ankle contracture Small hand Hepatic fibrosis Amenorrhea Pigmentary retinopathy Exocrine pancreatic insufficiency Progressive cerebellar ataxia Exotropia Prolactin excess Fine hair Speech articulation difficulties Choreoathetosis Broad-based gait Thick hair Abnormal autonomic nervous system physiology Sparse eyelashes Brittle hair Sparse eyebrow Hand clenching Mitochondrial myopathy Postnatal microcephaly Hypertelorism Hepatomegaly Poor coordination Hyperthyroidism Midface retrusion Brachycephaly Hypothyroidism Thin upper lip vermilion Hip dislocation Multiple lipomas Distal amyotrophy Sleep apnea Pallor Retinopathy Limited wrist extension Abnormal enzyme/coenzyme activity Myotonia Akinesia Joint contracture of the hand Pulmonary hypoplasia Limited extraocular movements Genu valgum Dilated cardiomyopathy Cough Decreased size of nerve terminals Paralysis Mildly elevated creatine phosphokinase Respiratory tract infection Apnea Hypertrophic cardiomyopathy Rigidity Narrow forehead Prolonged miniature endplate currents Polyhydramnios Recurrent respiratory infections Edema Abnormality of the skeletal system Unfavorable response of muscle weakness to acetylcholine esterase inhibitors Mask-like facies Impaired mastication Abnormal synaptic transmission at the neuromuscular junction Percussion myotonia Poor head control Poor suck Anxiety Neonatal respiratory distress Weak cry Myalgia Delayed skeletal maturation Elevated serum creatine phosphokinase Recurrent lower respiratory tract infections Depressivity Late-onset distal muscle weakness Fetal distress Bulbar palsy Right ventricular hypertrophy Abnormality of the knee Diaphragmatic paralysis Hand muscle weakness Type 2 muscle fiber atrophy Breech presentation Fetal akinesia sequence Triangular mouth EMG: neuropathic changes Thin ribs Spinal rigidity Slow pupillary light response Abnormal heart valve morphology Generalized-onset seizure Telangiectasia Papule Abnormality of the cerebral white matter Dry skin Vertigo Thick vermilion border Polyneuropathy Bilateral sensorineural hearing impairment Cardiomegaly Thick lower lip vermilion Subcutaneous nodule Lymphedema Coarse facial features Aminoaciduria Opacification of the corneal stroma Tinnitus Axonal degeneration Telangiectasia of the skin Abnormality of the periventricular white matter Motor polyneuropathy Angiokeratoma Angiokeratoma corporis diffusum Lip telangiectasia Abnormality of the eye Hyperkeratosis Distal sensory impairment of all modalities Paraparesis Nystagmus Strabismus Babinski sign Reduced visual acuity Abnormal pyramidal sign Spastic paraplegia Paraplegia Lower limb spasticity Clonus Fasciculations Spastic paraparesis Cerebral atrophy Steppage gait Scotoma Onion bulb formation Optic neuropathy Central scotoma Upper limb muscle weakness Poor fine motor coordination Decreased sensory nerve conduction velocity Axonal regeneration Focal white matter lesions Tibialis muscle weakness Increased urinary O-linked sialopeptides White mater abnormalities in the posterior periventricular region Dandy-Walker malformation Seizures Elbow flexion contracture Ragged-red muscle fibers Nasal speech Restrictive ventilatory defect Aortic root aneurysm Trismus Central hypoventilation Reduced vital capacity Nocturnal hypoventilation Generalized limb muscle atrophy Cataract Mitral valve prolapse Low-set ears Visual impairment Myopia Abnormality of the dentition Dystonia Short nose Absent speech Agenesis of corpus callosum Joint stiffness Talipes Joint hypermobility Abnormal lung morphology Unsteady gait Telangiectasia of the oral mucosa Distal lower limb muscle weakness Pes planus Muscular dystrophy Narrow chest Lumbar hyperlordosis Open mouth Muscle stiffness Congenital muscular dystrophy Decreased muscle mass Thoracic kyphosis Distal lower limb amyotrophy Myokymia Pneumonia Shoulder girdle muscle atrophy Narrow mouth Bifid uvula Left ventricular hypertrophy External ophthalmoplegia Dysphonia Generalized amyotrophy Long fingers Hip contracture Gait disturbance Dilatation Enlarged interhemispheric fissure



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Tremor and Postaxial polydactyly, related diseases and genetic alterations High palate and Microphthalmia, related diseases and genetic alterations Cognitive impairment and Pectus carinatum, related diseases and genetic alterations Failure to thrive and Intellectual disability, severe, related diseases and genetic alterations Global developmental delay and Thin upper lip vermilion, related diseases and genetic alterations Tremor and Short neck, related diseases and genetic alterations Rod-cone dystrophy and Joint hyperflexibility, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more